Myotonic dystrophy

Myotonic dystrophy is a multisystem disease chronic, slowly progressive, inherited. Emanciere is characterized by muscle, posterior subcapsular cataracts, cardiac conduction defects, endocrine disorders, and myotonic. It can affect patients of any age. There are two types of myotonic dystrophy. Steinhart type 1 disease with childhood onset, mild form of the disease and a severe defect. Also called proximal myotonic myopathy, type 2 disease is due to a type different from Mechanism 1 and is manifested by mild symptoms and signs.
Myotonic dystrophy is the most common form of muscular dystrophy affecting adults. It is the second form of skeletal muscle damage after Duchenne muscular dystrophy. Type 1 include 98% of all cases of muscular dystrophy.Symptoms vary by type of disease severity. Patients with type 1 myotonic dystrophy shows, and debilitating weakness distal cognitive problems. Manifest type 2 muscle pain, stiffness, fatigue or weakness develop proximal lower extremity. Weakness has different character for the two forms of the disease. In type 1, is seen in the face and jaw muscles, ptosis is present, spabiciunea neck muscles, hands and feet. In type 2 disease is more obvious weakness in proximal muscles: neck, shoulders, hip flexors and proximal legs.
Pathogenesis and causesMyotonic dystrophy is an inherited autosomal dominant genetic disease. It is transmitted to 50% of children ill parent. The disease is caused by an error in the genes located on chromosome 19 or 3. Defect in type 1 disease is an inherited mutation in protein kinase gene unstable. The disease is transmitted in an autosomal dominant defect appears to mean that genes are not associated with chromosomes determine the sex of the child. Dominant refers to the transmission of disease from parent to child sick regardless of its sex. None of the gene carrier status. Each was born with an affected parent has a 50% risk to inherit the disease.
There are two forms of the disease, the adult and the defect.Adult form occurs between 10 and 30 years of age. The severity of symptoms, rate of progression and degree of disability varies widely from one person to another, even from members of the same family. In most cases the disease progresses slowly.The form of congenital myotonic dystrophy, the most severe is present at birth. Affected children are born to mothers who have the disease. If a father is one who has the disease, children are not at risk of developing a severe congenital form of the disease.Children are no muscle tone and soft, has problems breathing and sucking. If you survive beyond the newborn stage, food and breathing problems.
Signs and symptomsAnyone can be affected by this disease. Myotonic Dystrophy debuts at any age. most patients get diagnosed when 20 years.With each generation siptomele become more severe disease, and age of onset is lower. The phenomenon is called anticipation.Classic symptoms associated with type 1 disease are generally mild and affect the smooth muscles, digestive symptoms, hypersomnia, muscle weakness, dysphagia and respiratory failure.It may manifest with cognitive abnormalities including developmental delay, learning problems, language, behavior, apathy and hypersomnia. Cognitive manifestations of type 2 disease problems of executive function include: organization, concentration, word finding and hypersomnia. Conduction abnormalities are more common in type 1 disease, but all patients have abnormal electrocardiography. Both types are associated with insulin resistance.Type 2 disease is generally mild, with fewer patients requiring assistance devices than type 1. Severe congenital form that affects children with type 1 disease was not found in type 2 and early onset siptomele are rarely seen in younger patients.
For myotonic dystrophy clinical picture of adult:Impossibility of muscle relaxation after a prolonged contractionWeakness of voluntary muscles, with slow progressionMuscle-stiffness-Ptosis-Unclear pronunciation of wordsDifficulty lifting the head-Difficulty lifting an object--Waddle-Difficulty climbing stairs or standing approach-Lack of facial expression.
Affecting the respiratory muscles may become poor lung function and body deprived of necessary oxygen. Weakness of the diaphragm and other respiratory muscles can lead to respiratory problems while sleeping.The heart may be affected in the disease type 1 or 2. Although myotonic dystrophy is a muscle disease and heart muscle does not affect cardiac conduction system. So after several years the patient will develop a management unit. Syncope and dizziness are common symptoms of block management. In the early stages of disease management a partial block may not cause symptoms but can be detected on electrocardiography.The internal organs of the body most affected are those tubular saculare. Their walls contain smooth muscle. These include muscles intestines, stomach, uterus and blood vessels. Lower digestive tract are affected by weakness and spasm. Form of cramping pains, constipation and diarrhea. Gallbladder stones develop more frequently. Due to the weakness of women may develop difficulty in the uterus that required a cesarean birth.Cataract-eye lenses blur areas that interfere with normal vision, is extremely common in both types of disease. It is caused by a chemical change in the lens. The exact cause of cataract in this disease is not known.
DiagnosisDisease diagnosis can be difficult because of the multitude of neuromuscular disorders, most very rare. Genetic counseling is very important and recommended to all patients due to high risk of disease transmission from byproducts of conception.
TreatmentThere is no specific treatment for myotonic dystrophy. Disease complications, including heart disease, cataracts and other abnormalities can be treated but not cured. However, there are medical interventions and drugs that improve some symptoms such as myotonic, excessive pain and drowsiness. Prescribing medications for constipation or diarrhea. A cataract is surgery.Respiratory problems are treated by assisting breathing and pumping air into the lungs during the night with breathing device predicts positive. Assistive devices for cough and mucous secretion clearing techniques relieve symptoms.Recent research provide information on pathophysiological mechanisms involved in myotonic dystrophy and shows interest in finding new treatments. Antisense therapy shows hope for more targeted treatments for the future.