wellness

Asthma is a lung disease that can cause difficulty breathing. Sometimes the airways become narrower and may have greater amount of mucus. This makes it difficult to breathe producing “the whistle.” This is called “asthma attack”. Between attack and another, may not have difficulty breathing, but can sometimes be coughing.

Causes of an Asthma Attack

• Pollen, dust, food, medicines.
• Respiratory infections caused by viruses.
• Abrupt climate changes.
• The emotional stress.
• Irritants and strong smells of perfume, chlorine, cigarette smoke.
• Heavy exercise.

What to Ask

Take it easy.

Give the asthma medicine prescribed by your doctor as soon as possible.

Give plenty of fluids such as tea or water.

Have your child sit and sit in a chair with back straight, if possible, to expel the mucus blocking the airways of the lungs.

If the previous steps do not help you and your child continues to have wheezing or difficulty breathing, take him to the hospital emergency room.

Day Care

In addition to treating asthma attack, your doctor may want the child to take asthma medicine every day. Continue to give the medication exactly as directed by your doctor.

In other situations, your doctor may want the child to take asthma medication only on occasion. For example, if you have a cold or when the weather gets cold.

Do not be left without medicines make sure you have sufficient quantities at home all the time.

Make sure you know the name of the medicine you take your child, when to give, how much to give and the possible reactions. If not sure, ask your doctor.

Encourage him to drink plenty of fluids.

Do not smoke or let anyone smoke in the presence of your child.

Try to identify the pollen, food or animals which may be allergy and stay away from them.

When you pass an asthma attack and breathing returned to normal, the child can return to normal daily activities provided they do not have a cough.

Muscular dystrophy is a group of several types of progressive degenerative diseases of the muscles. Taking each type and individual characteristics that differentiate it from other types of DM. At first glance, you can think through these features can make an identification or muscular dystrophy diagnosis type involved. But overall, we need to know in more detail what kind it actually is, giving a more accurate diagnosis and resulting in better management of long-term condition. Since due to many types of DM are very similar, it is necessary.

Muscular dystrophy Diagnosis

Physical exam by physician: A detailed DM diagnosis usually consists of a series of medical examinations or tests and clinics, which directly or indirectly show whether muscular dystrophy is present and which type is what is implied. It started with the physician’s suspicion of its presence. Such diagnostic tests are:

It is observed that the disease presents features, posture, walking, standing, climbing stairs, all to appreciate that physical abilities are affected and which not. Once done, physical palpation, checking individual muscles or groups of them, looking for a pattern of weakening them through muscle mass, size (abnormal) and flexibility. Traversed in this review the doctor may suspect whether the pattern of decline is typical of a muscular dystrophy. Depending on the overall results of this examination, he asked medical examinations for specific clinical DM.

Muscular dystrophy Diagnosis Blood Test Creatine Kinase (CK or CPK)

In the various types of diabetes, often secondary to causes of disease, imbalances are generated and / or increased number of muscle proteins and enzymes, this being indicative of illness. The most common type of enzyme that is analyzed for signs of the condition, the enzyme creatine kinase, which is found in muscles. CK is an enzyme that plays a very important role in energy production within cells or muscle fibers. This enzyme normally increases in the blood when muscle tissue is damaged by various causes, this smaller increase. But in the case of DM due to progressive muscle degeneration process, the damaged muscle tissue blood flow sends large amounts of CK, well above normal, between 10 and 100 times more than normal.
It is therefore by measuring the amount of CK in the blood, indirectly, can have a clear indication of the presence of the disease.

Muscular dystrophy Diagnosis with Electromyography (EMG):

Normally when a muscle contracts, an electrical flow in the muscle tissue in response to electrical nerve signal. The electrical pattern of the electrical flow, is well known in a healthy muscle. In the case of DM muscle tissue operates abnormally, so that the electrical flow in response to electrical nerve signal will be abnormal, causing an abnormal pattern of this flow, which can be recognized. The form used to measure the abnormality is through a special device known as electromyography, which measures and records electrical flow patterns of muscle contraction. A review of EMG, two small electrodes are placed above the device on the skin over the muscle, a small electrical charge generated by the device, and this measures the electrical response of muscle to contract by the load. Once measured and recorded the electrical flow will be analyzed for any abnormalities, and on that basis will know if the disease is present.

Biopsy

A biopsy is a minor surgical procedure in which a tiny piece of tissue or organ, this to be studied in detail under a microscope by a pathologist (a specialist who looks for the presence of disease), and find presence of certain disease at the cellular level. In the case of DM the biopsy is done on muscle tissue, being a minor surgery, using only local anesthesia in most cases, and usually does not cause significant discomfort. Once you remove the small piece of muscle is cut in very thin sections, followed by giving special treatment to preserve the sample and so that it can be examined under a microscope. Then, the pathologist examines the sample for signs of muscle fibers of muscle damage and / or features to be told if the disease is present, how far along, and Muscular Dystrophy type possibility.
One advantage is that the biopsy sample can be analyzed several times, and by several specialists, without requiring you to perform another biopsy.

Muscular dystrophy Genetic Diagnosis:

Muscular dystrophies in full, due to a genetic problem in a related gene encoding a certain protein in muscle. Because of this, some types of diabetes is possible to examine the genetic code of the person concerned, looking if there is a problem with a gene related to any of those types of disease. In general, this type of genetic testing is of recent use, and because of that only some types of MD is known with certainty the location of the abnormal gene is not always possible to use for all types, or perhaps several family members require sample the affected party. Moreover, this type of examination tends to be much more expensive than the others, and take longer to get a result, not always performed well in the country concerned.
Yet despite this when it knows the gene involved is highly accurate, and even serves to identify a carrier and to know their chances of inheriting the disease.

Duchenne muscular dystrophy (DMD) is the most common inherited neuromuscular disease in childhood (1/3.000 male births), with recessive X-linked The current delay in the diagnosis of this disease makes many parents have other sons during the asymptomatic stage of the first affected child.

The objective of this review is to assess the feasibility of a neonatal screening for DMD nonselective which would give the parents of a newborn affected eugenics timely genetic counseling and to avoid the appearance of new cases.

Development. In duchenne muscular dystrophy, the enzyme creatine kinase (CK) levels are always high, since birth. Numerous international studies have shown the high sensitivity of neonatal screening for DMD by measuring the levels of CK. To this end, the heel enough impregnated filter paper and application of techniques such as spectrophotometry and fluorometric with others that have shown fast and affordable.

Given a positive outcome, there would be confirmation of diagnosis by conventional techniques appropriate genetic counseling and eugenics. Conclusion. In spite of having no effective treatment, screening for neonatal screening for DMD by CK serum technically possible at reasonable cost, could be justified in order to identify families at risk and offer genetic counseling early, thereby could be avoided as one in five cases of this serious disease.

U.S. scientists discovered a way to reverse muscular dystrophy
According to an article published on July 30, 2006 by BBC News, a group of U.S. scientists has discovered the Nature Genetics way to reverse muscular dystrophy in mice, encouraging the hope of finding a cure for humans. The animals in the study had myotonic dystrophy is the most common in adults.

Myotonic dystrophy causes by a major expansion of the DNA code, which probably causes a buildup of toxic messenger RNA molecules in cells. The mRNA or messenger RNA is a copy of the information carried by a gene on the DNA, so that if the DNA is defective, the mRNA will too. These abnormalities are those that lead to the loss and progressive weakness of the muscles and heart problems seen in myotonic dystrophy.

Dr Mani Mahadevan and his team thought that eliminating the toxic mRNA molecules might help reverse the process of disease. To do this, did the mice they had a faulty DNA that could be switched on or off by adding or removing an antibiotic in their drinking water.

In phase with activated DNA, the mice showed all the key features of myotonic dystrophy, on the contrary, when DNA was off, most of the mice (but not all) recovered their normal functions of skeletal muscles and heart. Although treatment was not 100% effective, the researchers believe their findings are proof that all scientists were hoping to demonstrate that it is possible to reverse muscular dystrophy.

Their work also suggests that the toxic mRNA that causes the disease.Pohlschmidt Dr. Marita, the Muscular Dystrophy Campaign, UK, says that “the muscular dystrophy research results are very encouraging for finding a treatment for myotonic dystrophy. ” He adds: “It may be possible to reverse the symptoms of the disease by neutralizing the toxic substance is produced, but much work remains to be done before we can be sure will work.”

Incoming search terms:

• antibiotic sensitivity in muscular dystrophy
• muscular dystrophy and gall stones

Muscular dystrophies are part of a variety of genetic alterations that are associated with different gene mutations that lead to progressive weakness and muscle atrophy. Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder, which causes mutation in the dystrophin gene located on Xp21. It is fatal and has an estimated incidence of 1 in 3500 male births. The main finding is the progressive muscle weakness associated with deficiency of sarcolemmal protein called dystrophin 427-kda. There are a wide range of symptoms in the disease, which may delay diagnosis, Most changes start before the age of four, commonly characterized by difficulty in gait and falls.

muscular dystrophy statistics

Dystrophin is a large gene consisting of 2.6 million DNA base pairs and contains 79 exons. In two thirds of cases the disease is transmitted by a female carrier and the remaining third comes from de novo mutations, no family history of the disease. Approximately 60% of DMD cases are associated with a large intragenic deletion of one or more exons located significantly in the proximal and middle of the gene (exons 3-7 and 44-55 respectively).

About 6% of mutations are associated with duplication of a large segment and the remaining cases result from mutations, small deletions or insertions. The following report will refer a number of cases evaluated at our institution to ascertain the main features of clinicopathologic presentation of DMD and conducted a review of clinical and therapeutic aspects of this type of muscular dystrophy.

Muscular dystrophy Diagnosis

DMD is a lethal X-linked recessive, so the risk of recurrence in a female carrier of the disease in each pregnancy is 50% of sick children, 50% of healthy children, 50% of daughters carriers and finally 50 % of daughters carriers. The muscular dystrophy diagnosis in a family creates hence the need to detect female carriers in order to establish the appropriate genetic counseling.

In the present series only one family could study to establish the carrier status of the mother, which was performed at a national referral center. Advances in molecular genetics have expanded knowledge in relation to muscular dystrophy. Clarification of the pathogenesis, due to lack of a specific protein complex that alters the dystrophin-associated proteins has created a new classification based on the protein and genomic defect. The dystrophinopathies X-linked from a mutation in the dystrophin gene, which is the most common inherited myopathy in men and shows varying degrees of severity from asymptomatic elevation of creatine in Becker Muscular Dystrophy (BMD) which is the form of a mild to severe form of DMD whose disease progresses rapidly and may lose the ability to walk before 12 years.

The course of the DMB is therefore more benign and the average age of onset of symptoms such as muscle weakness and gait disturbance is reported around 12 years old. The clinical phenotype and paraclinical results are relatively homogeneous in DMD, as expressed in the cases studied in this report, which shows no significant differences in the clinical course of other series of cases reported in the literature, but the pediatrician should know to diagnose the various tests and use complementary and available for the diagnosis and provide timely medical care to the patient and family.

DMB shows a more heterogeneous, with little correlation between clinical and laboratory findings. Patients with DMD may have a lower average cognitive and can be shown more specifically on language deficits. In 25 Dutch patients with a mean age of 10 years, five had serious disorders, and five moderate reading. These reading problems were independent of the level of information processing and behavioral functioning. Analysis of reports in parents claimed: the acquisition of early precursors of language in 130 children with DMD and 59 siblings of those who were not affected.

Children with DMD were more likely to show delays in both the motor and language development also had low cognitive scores compared to their healthy siblings. These data show the need for early intervention, as early onset of limited help for learning problems will give benefit of their quality of life. A study analyzed the perception of quality of life of DMD patients conducted in Brazil, reported that the motive which produces unhappiness is caused by socialisolation, as a result of this patient immobility and the second reason is the limitations imposed by the disease, although in this case is more present in the child’s caregiver perceptions own. A cardiopulmonary disease causes progressive muscle weakness, respiratory and other skeletal muscle.

Vital capacity increased along with the physical growth during adolescence, it began to decrease in the early stages of DMD patients. It entered the phase of decline in vital capacity, falling by an average of 8.5% per year after 10-12 years. As a result, patients develop chronic alveolar hypoventilation with advanced. Heart disease manifests as dilated cardiomyopathy and / or cardiac arrhythmias. Ikeniwa, Reported two cases of patients 21 years of age with DMD complicated with dilated cardiomyopathy and stroke, dysarthria and right facial weakness in the first patient with hemiplegia and dysarthria together right at the second. Death occurs primarily from the twenty years from cardiopulmonary failure, where patients are usually subjected to mechanical ventilation.

Muscular dystrophy treatment

Advances in strategies for muscular dystrophy treatment described by Nowak and Davies include stem cell therapy, transplantation of myoblasts, gene replacement therapy, sobrereguladora therapy, proteasome inhibitors and precise correction of mutation, and other tools that are being tested, with varying results. However, the available management so far in our area are of medical, surgical and rehabilitation, to optimize and maintain function.

Among the different drugs have been tried as treatments only corticosteroids have provided a temporary improvement. The results show a low rate of progression or stabilizing muscle strength, but the adverse effects of chronic steroid use has not allowed the consensus of this drug in the standard treatment for DMD. King et al Studied the effects orthopedic long-term treatment with corticosteroids in 143 young people affected, which steroid treatment significantly reduced the scoliosis for over three years independent ambulation, however, there is an increased risk of vertebral and lower limb compared with untreated patients.

The mechanism action of corticosteroids is still uncertain, although several possibilities have been proposed based on the observation in the animal model and in a limited number of patients studied, which include: 1. Altered mRNA levels of structural and signaling genes in the immune response. 2. Reduction of cytotoxic T lymphocytes. 3. Decrease in calcium concentration and flow. 4. Increased expression of laminin and myogenic repair. 5. Delayed muscle apoptosis and cellular infiltration. 6. Enhances the expression of dystrophin. 7. Impairment of neuromuscular transmission. 8. Attenuates necrosis of the muscle fiber. 9. Decrease the percentage of muscle fiber damage. 10. Increased levels of taurine and creatine muscle.

However, further muscular dystrophy research is needed to establish the cellular mechanisms that demonstrate the usefulness of the drug in DMD. On the other hand has been reported that oral administration of glutamine or amino acid supplementation for more than ten days inhibits the breakdown of body protein. While there is no curative treatment can only slow the progression of the disease through a multidisciplinary approach which includes attention and assessment: neurological, nutritional, cardiovascular, respiratory, orthopedic, psychiatric and genetic latter to provide timely advice parents and relatives of patients.

It is also necessary that this treatment should be conducted at an early stage, regular and permanent in this way can reduce these effects and improve life expectancy of patients. It is necessary to know the representative aspects of this disease to be diagnosed early and in turn should be noted that other types of muscular dystrophy, whose data are needed to establish differential diagnosis. In addition to conducting a genealogy can help guide diagnosis or corroboration.

It is essential to conduct a thorough and proper clinical examination looking for signs and symptoms characteristic of the disease, testing laboratory examination results discussed in this report, as well as muscle biopsy to determine the defect through the realization of immunohistochemical and molecular studies of gene alteration, all together to determine the diagnosis of both the patient and the mother and women living in the family. In our institution is not performed molecular diagnosis of conditions such as mentioned above, important information to correlate phenotype and genotype. However, a patient with clinical suspicion of muscular dystrophy, and their families enter into a multidisciplinary clinical assessment protocol to provide comprehensive medical care. The review of cases assessed as presented in this section provides us with interesting data on the clinical course of patients, and committed group of physicians continually updated scientific advances relating to this type of alteration lethal, to provide new tools treatment to be available.

Types of muscular dystrophy

• Becker’s muscular dystrophy • Congenital muscular dystrophy • Duchenne muscular dystrophy • distal muscular dystrophy • Muscular Dystrophy Emery-Dreifuss • Facioscapulohumeral muscular dystrophy • Duchenne muscular waist and limbs • Myotonic Muscular Dystrophy • Muscular dystrophy oculopharyngeal

Incoming search terms:

• muscular dystrophy
• muscular dystrophy female
• when is muscular dysrophy commonly diagnosed
• Duchenne muscular dystrophy late diagnosis
• muscle dystrophy
• waist muscular dystrophy
• physical impairment
• PEMF Muscular dystrophy
• muscular dystrophymuscular dystrophymuscular dystrophymuscular dystrophy causes
• behavior tips for children with myotonic muscular dysrophy

Definition

Steinert syndrome (Myotonic Muscular Dystrophy MMD) is a hereditary progressive muscle slowly and gradually, usually manifested in adulthood. It is characterized by:

• Myotonia or difficulty muscle relaxation. There is a sustained muscle contraction.
• Slow but progressive muscular atrophy.
• Systemic manifestations.

The earlier the disease occurs, the greater the degree of severity.

One form of early onset is known as congenital myotonic dystrophy, which occurs in babies born to parents who have the adult form and has not yet manifested or made very light. The congenital form is the most severe form of Myotonic Muscular Dystrophy. Normally, the mother has the disease, although their symptoms are so mild that it has not detected.

Mothers can also transmit the adult form, men with myotonic dystrophy when they have children, they can also inherit the disease, but usually occurs in adulthood.

Myotonic Muscular Dystrophy Causes

It is a systemic disease that is inherited as an autosomal dominant through the mother, which means that only one defective gene is needed to cause symptoms of the disease. Therefore, if one parent has the disease, every child of that person will have a 50 percent chance of inheriting the gene that causes the MMD.

If you pass the gene is almost certain that the child will develop the disease and will often be more severe in the child than the father.

In 1992 it was discovered that people with MMD is an area of DNA on chromosome 19 that is larger than it should be. The genetic defect is in a part of “untranslated” which is an area of DNA that does not use the cell to manufacture proteins. It was found that the expanded section of DNA on chromosome 19 was extended further when transmitted from father to son. The researchers found that this explained the observed phenomenon in the MMD, where children are most affected by the disease than their parents.

Scientists are trying to discover how and why there are so many myotonic dystrophy symptoms and could be extended to the area affect the operation of more than one gene.

Incoming search terms:

• babies born to parents that have a mmd gene

Myotonic dystrophy Symptoms vary greatly from one person to another, which may occur:

Myotonia

This is a difficulty for relaxation after a voluntary muscle contraction or provoked. The contractions are painful and are not causing the patient’s disability.

Muscle weakness

In the evolution of the disease appears muscle weakness, causing disability, due to degeneration of muscle fibers. It occurs primarily in the facial muscles and distally in the lower extremities.

The weakness of the muscles of the face gives them a characteristic expression:

• Smile inverted.
• Sunken cheeks.
• Ptosis (drooping eyelid).

Usually no cause can grasp objects and hard as they do weaken the muscles that raise the foot when walking, they collapse and results in smoothly. Some people compensate by lifting the foot from the knee walking “step up”. In fact, the use of canes and other aids are more useful.

There are also various devices that hold the hand in a position to use the keyboard or write and compensate for the weakness of the muscles of the wrist or hand.

The weakness may also occur at the level of the muscles of the esophagus, stomach, intestinal and uterine.

Myotonic dystrophy Symptoms Systemic manifestations

Heart

• Involvement of the myocardium that can cause heart failure.
• Involvement of cardiac valves.
• Commitment Ventilatory by many factors.

Symptoms that can be appreciated are: fainting, lightheadedness and dizziness.
Involvement of respiratory muscles and throat

• It can affect the respiratory muscles including the diaphragm.
• Difficulty coughing, which can accumulate secretions.
• Restrictive lung abnormalities.
• Obstructive Sleep Apnea.

It can deprive the body of needed oxygen, so many almost always dream

• Sleep apnea: breathing stops for a few seconds or even minutes while sleeping.
• Swallowing problems, the person may drown or “swallowing the wrong way.” Food or drink passing into the windpipe instead of the esophagus (the throat to the stomach). Vomiting can be very dangerous to pass the stomach contents into the lung.

It may be useful at night using a portable ventilator to compensate for the weakness of the muscles controlling breathing and altered brain on respiration.

Gastrointestinal: in 80% of patients

• Weakness of the muscles of the throat with difficulty swallowing.
• Delayed gastric emptying.
• Pseudobstruction intestine. Diarrhea and constipation.
• Higher incidence of cholelithiasis (gallstones).
o Difficulty digesting fatty foods.
o Pain in right upper abdomen.

Other

• Cataracts develop almost everyone.
• Alterations of the endocrine apparatus hypothyroidism, testicular atrophy, impaired glucose metabolism, including diabetes mellitus.
• Mental retardation. Many people have labeled those affected by myotonic dystrophy as slow, apathetic or dull. Recall that the disease affects a very variable. However, mental disability is rare in the adult form.

They often need more sleep than others, and suggests there may be anomalies in those parts of the brain that determine the rhythm sleep / wake, which together with respiratory distress worsens.

The weakness of the facial muscles and drooping eyelids are added to the impression of “dumb” you can have these people.

Anesthesia

There is a high incidence of complications and even death with general anesthesia, even with a mild grade myotonic muscular dystrophy. If you have to undergo surgery, make sure you are aware of their condition the surgical team.

Incoming search terms:

• Gallbladder surgery and myotonic dystrophy
• muscle weakness in esophagus and eyelids
• myotonia and constipation
• myotonia degeneration
• myotonia myosin
• myotonic disorders of the esophogus
• myotonic dystrophy predisposes for what medical complications
• myotonic stomach

Also very variable, is characterized by:

• Generalized hypotonia. The child takes the typical posture of “open book”, poor spontaneous motility and decreased reflexes. There is no myotonia characteristic of the adult.
• Respiratory failure.
• Difficulty sucking and swallowing.
• Skeletal deformities: ribs thin, deformed feet (probably due to abnormal muscle development during pregnancy, etc.).
• Bruising.
• Edema.
• Mental retardation in late lactation. It is not always, and when it does appear to be due to abnormal development of certain parts of the brain caused by genetic abnormalities. It has also been suggested to be due to the high incidence of complications during childbirth that occurs in the affected mother. The medical team that treats the mother should be aware of this situation.

Presents an autosomal dominant, but when it appears in newborn’s mother is always the affected parent. Because many adults are unaware of their disease is very difficult diagnosis.

Molecular genetic techniques allow diagnosis of the disease and the possibility of offering genetic counseling to families.

It can be diagnosed during the first trimester of pregnancy through chorionic villus.

Congenital Myotonic Dystrophy Diagnosis

Diagnosis is mainly clinical.

Physical examination

A physician with expertise in neuromuscular disorders can be diagnosed with the disease relative ease. Other times may be the ophthalmologist who appreciates the falls and suspected diagnosis.
A teenager or adult usually has a characteristic appearance, along with other symptoms the doctor will ask. Some say that his parents had muscle problems.

Problems with the fists relax or release a tool, which are signs of myotonia.

To confirm the diagnosis is made by direct analysis of mutation: molecular analysis, which is indicated do in the following circumstances:

• Confirmation of clinical diagnosis.
• For detection of carriers without symptoms who belong to a family history of the disease.
• Prenatal diagnosis.

Congenital myotonic dystrophy:

Major Criteria

• Hypotonia.
• Myopathic facies.
• Muscular atrophy.
• Breathing difficulties.
• Feeding difficulties.

Additional criteria must be four

• Skeletal deformities.
• Elevation of the diaphragm.
• Ribs thin.
• Bruising.
• Edema.
• Dilated lateral ventricles.
• Anal sphincter insufficiency.
Confirmation is established by additional tests, neurological study, muscle biopsy and / or genetic study

Prognosis

The determining factor is the age of onset of the disease.
Adolescents and children with symptoms of myotonic dystrophy can “overcome” many aspects of the disease associated with muscle weakness to grow and mature. Mental retardation does not improve, but these children can learn if given the proper tools and environment.

Unfortunately, despite initial progress during childhood, all children with congenital myotonic dystrophy develop the adult form.

Treatment

At present, there is no specific treatment that proves effective. Treatment focuses on managing symptoms and minimizing disability to the extent possible.
• Canes, braces, walkers and motorized wheelchairs can be useful in mobility problems.
• Careful monitoring of cardiac and respiratory functions that can lead to early treatment of these problems with a cardiac pacemaker or respirator laptop.
• Medications and other treatments for constipation and other ailments of the digestive tract.
• Cataract surgery and surgery for drooping eyelids can significantly improve the view.
• New drugs to treat excessive sleepiness can make life easier for the person with Myotonic dystrophy and your family.
Early intervention in children with congenital myotonic dystrophy is crucial. Hearing abnormalities and vision should be diagnosed and treated promptly. Surgery to correct the lack of coordination of the muscles of the eyes and special education can have great influence on the subsequent success of the child’s life.

Incoming search terms:

• congenital myotonic dystrophy complications
• congenital myotonic dystrophy disease
• conjenital myotonic dystrophy
• how to overcome myotnia disease
• Myotonic Dystrophy children treatment

The myotonic dystrophy (MD), Also known as myotonic dystrophy type 1, MD1 is a hereditary disease multisystem chronic, slowly progressive and highly variable heritability can happen at any time of life from birth to old age. It is characterized by a reduction in muscle mass (myotonic muscular dystrophy) Cataracts posterior subcapsular iridescent (lens opacity) defects in cardiac impulse conduction, changes endocrine and myotonia (Difficulty relaxing a muscle). It is curious that the age of onset is highly variable, decreases with successive generations. Thus the disease shows an age of onset dwindling, a phenomenon called anticipation. There are two classifications of myotonic dystrophy, each having different associated myotonic dystrophy symptoms.

Myotonic dystrophy classification

Myotonic dystrophy is the most common form of adult onset of muscular dystrophy and the second most common form of skeletal muscle disease after Duchenne muscular dystrophy. Currently there are two kinds of diabetes onset in adulthood: Myotonic dystrophy type 1 (MD1), the actual known as Steinert’s disease and myotonic dystrophy type 2 (MD2), commonly referred to as PROMMA or proximal myotonic myopathy. Both are identified by DNA analysis. The congenital myotonic dystrophy form can seriously affect babies and has a form of childhood-onset. Researchers suspect that there are more forms of myotonic dystrophy (MD3, MD4, MDX).

Differences between MD1 and MD2

Muscle biopsy from a patient with myotonic muscular dystrophy 2 showing mild changes and grouping of atrophic red fibers. Immunohistochemical analysis of myosin type-1 or “slow”
Although both diseases are considered as slowly developing degenerative disease, type 2 diabetes is generally milder than myotonic dystrophy 1. The severe congenital form that affects babies in MD1 has not been found in MD2 and rarely published medical literature juvenile onset of this form. The expansion of trinucleotide of MD2 is considerably longer in MD2 than in MD1, ranging from 75 to more than 11000 repeats. Unlike MD1, the size of trinucleotide expansions in the DNA does not seem to make no difference in age of onset or disease severity in MD2. It seems to be less significant in type 2 standard and revisions relate only to produce a slight advance in the latter case.

The myotonic dystrophy is a disease transmitted genetics where he is involved a pattern of autosomal dominant, Meaning that a mutant gene from one parent will result in this condition. There is a 50% chance of receiving the affected parent MD. In MD1, the gene affected is MDPK (myotonic dystrophy protein kinase that encodes myosin kinase expressed in skeletal muscles. This gene is located on the long arm of chromosome 19. The MD2 is similarly caused by a defect ZNF9 gene in chromosome 3.

Myotonic dystrophy is one of the severe trinucleotide repeat disorders. Certain areas of DNA have repeated sequences of two or three Nucleotide. In MD1, there is a triplet repeat cytosine – thymine – guanine (CTG) in the MDPK gene. The number of repeats varies greatly from person to person, but on average in a healthy subject is between 5 and 37. Sometimes when repetitive DNA sequences are replicated in cell division cellular machinery adds an extra copy of the triplet repeat sequence. So there are 37 triple repeats in the MDPK gene, the sequence begins to become unstable and landslides are more likely to occur. The affected population of MD1 are over 50 and sometimes as many as 2000 iterations.

The result is that the repeat size of an individual with MD1 will become larger as they age. This explains the phenomenon of anticipation and each child of an affected adult will have greater expansion than its predecessor due to landslides during the gametogenesis.

Individuals with larger expansions have the disorder earlier and more severe phenotype. The repeat expansion for MD2 is much larger than in MD1, ranging from 75 to more than 11,000 repetitions. Except MD1, the size of the repeated DNA expansion does not appear to be significant in the entrance age or disease severity in MD2. The advance appears to be less significant in T2MD and half reported current reviews anticipation as a feature of MD2.

Myotonic dystrophy symptoms

Affected individuals have a typical “hatchet-shaped face” the result of atrophy of the temporalis muscles, masseter, and facials.

Men often have frontal alopecia. The muscles of the neck and distal members are affected early.
There is weakness of the extensors of the wrist, fingers and intrinsic hand muscles. The muscles that allow dorsiflexion of the ankle are affected causing a foot drop. The proximal muscles are usually preserved, although many patients have involvement of quadriceps. There is involvement of muscles of the palate, throat and tongue that can cause dysarthria, nasal voice and swallowing problems. Many patients have weak respiratory muscles, causing respiratory failure.

Myotonia may be evident from the age of 5, asking the patient to close his hand tightly, and then relax, which occurs slowly.

The cardiac manifestations are common, mainly first-degree AV block, including electrical problems and mitral prolapse. Complete blockages can occur, causing sudden death of the patient.

Incoming search terms:

• difference between md1and md2
• myotonic dystrophy and diabetes
• myotonic dystrophy myosin
• myotonic dystrophy- hatche face
• triple repeats anticipation

Made a vehement call authorities and medical scientists of the Social Security Fund (CCSS), the Costa Rican population to join forces and reduce the impact of diabetes.

As revealed today, Dr. Eduardo Doryan Garron, chief executive of the CCSS, the disease is affecting thousands of Costa Rican families and it is urgent to curb it by practicing healthy lifestyles.

It is estimated that in Costa Rica two people a day die because of diabetes. In 2008, the National Institute of Statistics and Census (INEC) reported 742 deaths from this cause which represents 4.2 percent of total deaths registered during this period in the country.

Type 1 diabetes facts and statistics

Dr. Doryan Garron said that according to a study by the Actuarial and Statistical Area data from the CCSS, in 2008, the institution provided 400,297 consultations due to diabetes, 15 percent more than those in 2004.

Institutional investment to tackle diabetes in that year amounted to ¢ 20.559 million by way of consultation, care in the emergency services, hospitalizations and disabilities. Only a hypoglycemic drug purchase as the acquisition of insulin, the CCSS spent $ 5.1 million to maintain daily treated 175,678 patients.

Type 1 diabetes facts: According to information issued by the Statistics Area of the CCSS, the female population is most affected with the disease, since in the reference period were 101,639 outpatients and 26,547 emergency room more often than men. The behavior was similar in expenditures since they had more than 276 discharges them.

A third of patients hospitalized with diabetes, he had to perform any special procedures such as amputations of the lower and upper abdominal surgeries in the region, x-ray soft tissue of the face, head and neck, among others.

The study by the Actuarial Department also reveals that 87 percent of deaths occurring in Costa Rica were in people whose age was about 50 years and is estimated to lose a total of 7211 years of life due to this cause death.

In Costa Rica about 90 percent of diabetes cases are type 2 and 10 percent have type 1 diabetes or juvenile diabetes. Indeed, one of the great efforts made by Costa Rica is that 100 percent of patients with type 1 diabetes under control in the National Children’s Hospital.

Now the concern of the experts is that type two diabetes is appearing in increasingly younger population, including children. At this time, Children’s Hospital has treated 35 children diagnosed with type 2 diabetes, as revealed Dr Orlando Jaramillo, an endocrinologist at the medical center.

For his part, Dr. Carlos Arguedas Chaverri, Section Chief of Medicine, Mexico Hospital and Dr. Eduardo Rodriguez Caldera, head of the Endocrinology Service of Hospital San Juan de Dios, were emphatic on the urgency of the Costa Rican population control weight, not smoke and have adequate nutritional habits.

It is necessary for obese people, those with a family history of diabetes, during pregnancy women who have had diabetes and those who have had children whose weight exceeded four kilos, perform a screening to see if they are diabetic.

It is important, according to experts, diabetic patients to remember that control of the disease has three pillars: the constancy of physical activity, diet and discipline in the use of medications. If any of these three pillars failure of disease control also fails.

Incoming search terms:

• diabetes stats for costa rica
• statistics of type 1 diabetics in philippines
• type 1 diabetes costa rica
• diabeties facts for spain
• Dr Eduardo R Rodriguez Diabetes
• percentage of people with diabetes in costa rica
• type 1 diabetes facts and statistics