Other Types Of Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy This disorder is autosomal dominant, autosomal recessive (very rare) or X-linked inherited. The incidence is not known. Women can be carriers, but only men are affected by X-linked inheritance. The genes that are associated with the Emery-Dreifuss Muscular Dystrophy, encode some nuclear membrane proteins Lamin A / C (autosomal) and Emerin (X-linked). Symptoms and complaints muscle weakness and muscle wasting can always start before age 20, affecting biceps, triceps and, albeit less frequently, the leg muscles. Characteristic are multiple early seizures. Often the heart is involved, with Vorhofparalyse, conduction disorders (atrioventricular block), cardiomyopathy and a large probability of a sudden Tod.Diagnose The diagnosis is made by the characteristic clinical findings, age at onset and family history. The diagnosis is supported by the slight increase in creatine kinase levels and myopathic signs in EMG and muscle biopsy and DNA analysis bestätigt.Therapie The treatment aims to contracture. In some patients with a line fault, a pacemaker is lifesaving. Myotonic dystrophy, the myotonic dystrophy, the most common type of muscular dystrophy among fair-skinned people, affects about 1 in 8,000 of the general population. Inheritance is autosomal dominant with variable penetrance. the disturbance caused by the two loci DM 1 and DM 2 Congenital Muscular Dystrophy affected mothers and fathers rarely with DM 1 mutations can have offspring with a severe form of myotonia, which is known as congenital muscular dystrophy. This form is characterized by severe hypotension (schlapper infant), difficulties in feeding, breathing, skeletal deformities, facial weakness and delayed psychomotor development. Up to 40% of children do not survive, mainly because of respiratory Insuffizenz and perhaps because of cardiomyopathy. Up to 60% of survivors spiritual Behinderung.Symptome and complaints have the symptoms and complaints of muscular dystrophy begin in adolescence or early adulthood and include myotonia (delayed relaxation after muscle contracture), weakness and wasting of the distal extremities (especially the hand) and the facial muscles (ptosis is especially common) and cardiomyopathy. Mental retardation, cataracts and endocrine disorders can also occur. Death is usually caused by respiratory and heart disease, and patients who develop cardiac arrhythmias and severe muscle weakness at a younger age, are delivered at increased risk of premature death. The mean age of death is 54 Jahren.Diagnose The diagnosis is at characteristic clinical findings, age at onset of disease, as well as family history and probably will bestätigt.Therapie by a DNA Analysis A myotonia can (on membrane-stabilizing drugs z. B. mexiletine, procainamide address, quinidine, phenytoin, carbamazepine). Of these drugs have been shown to mexiletine that myotonia in non-dystrophic myotonia significantly reduced, and it is now the drug of choice for patients with muscular dystrophy who have a functionally limiting myotonia. Because mexiletine can trigger arrhythmias in patients with underlying ventricular arrhythmias in rare cases, the drug in patients with AV block 2nd or 3rd degree is contraindicated; a consultation with a cardiologist is recommended prior to initiation of treatment with mexiletine, especially in patients with an abnormal EKG. It is not so commonly that the patient is disabled by myotonia; it is the weakness for which there is no treatment available. Rails for the Fallfu are usually required when the disease progresses. Limb girdle muscular dystrophy The members of the belt type has 21 currently known subtypes, 15 are autosomal recessive, 6 autosomal dominant. The incidence is not known. Men and women are equally affected. Insights from molecular biology have redefined the type of classification. are autosomal dominant forms as LGMD 1A-1B, -1C and so classified are recessive forms as LGMD 2A-2B, and so on-2C classified. Some loci were identified: 5q (no known gene product) for the autosomal dominant type and 2q, 4q (Beta-sarcoglycan), 13q (gamma-sarcoglycan), 15q (calpain, a Ca-activating protease) and 17q (alpha-sarcoglycan or Adhalin) for the recessive type. the structural (dystrophin-associated glycoprotein) or the non-structural (eg., proteases) may be affected proteins. Symptoms and signs Patients usually come with a slowly progressive, symmetrical proximal muscle weakness with or without facial involvement and diminished or absent tendon reflexes in the treatment. The pelvic or shoulder girdle muscles can be affected first. The first appearance of symptoms autosomal dominant types can in early childhood, but also occur in adulthood The autosomal recessive cases begin in a better childhood and relate primarily to the Beckengürtel.Diagnose The diagnosis age is characteristic clinical findings in suspected onset and family history and requires an examination of muscle histology, immunocytochemistry, Western blot analysis as well as genetic tests to specific Proteine.Therapie treatment focuses on preserving function and preventing contractures. The guidelines issued recently by the American Academy of Neurology, suggest that newly diagnosed LGMD patients are moved at high risk of cardiac complications for cardiac evaluation, even in the absence of cardiac symptoms. For those at high risk for respiratory failure pulmonary function tests should be performed. All LGMD patients should be placed ideally in a multi-specialty clinic with experience in treating neuromuscular disorders. There is currently apart from a research study no role for gene therapy, Myoblastentransplantation, neutralizing antibodies against myostatin or growth hormone. Facioscapulohumeral muscular dystrophy The facioscapulohumeral muscular dystrophy (FSHMD, muscular dystrophy Landouzy-Dejerine) is an autosomal dominant disorder. In approximately 98% of patients FSHMD is caused by a deletion in the long arm of chromosome 4 in the 4q35 locus. In about 10-33% of patients, the mutation de novo occurs (sporadic) on, in others it is inherited. FSHMD is the third most common muscular dystrophy according to the Duchenne muscular dystrophy and muscular dystrophy Mytonie and affects 1 in 20,000 fair-skinned people. Symptoms and complaints FSHMD is characterized by a weakness of the facial muscles and shoulder girdle. The symptoms may develop in early childhood and are evident typically in the teenage years; 95% of cases become manifest only after the age of 20 years. Initial symptoms develop gradually and may be evidenced by the difficulty in whistling, closing the eyes and arm lift due to a weakness of Skapulamuskulatur. Affected patients notice some point a change in facial expression. The course is different. Many patients are not hampered and have a normal life expectancy. Other patients are confined to a wheelchair in adulthood. A child variation which is characterized by a weakness of the face, shoulders and Hüftgürtelmuskulatur, proceeds rapidly. This form can be tough. Not muscle symptoms that are commonly associated with this condition can hearing loss and retinal vascular changes sein.Diagnose Diagnosis is by characteristic clinical findings, age at onset, as well as family history probable and is bestätigt.Therapie by a DNA analysis There is no treatment for the weakness, but a physical therapy can help to maintain the function. Monitoring of retinal vascular changes is essential to prevent blindness. Congenital Muscular Dystrophy The congenital muscular dystrophy is not a single disorder, but refers to an evident at birth muscular dystrophy, which can develop from all sorts of rare forms of muscular dystrophy. All these dystrophies are genetically recessive and results from mutations of a variety of different genes including those who are responsible for the basic proteins of the basement membrane or extracellular matrix of skeletal muscle fibers. The diagnosis is suspected in a newborn limp, must be defined by a muscle biopsy but in any case of a congenital myopathy (congenital myopathies). The treatment consists of supportive treatment, including physical therapy, which helps to maintain muscle function.

Leave a Reply