Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. Gowers sign, tiptoe-walking and contractures of the joints (especially the fingers) are typical signs and symptoms of the disease. Bethlem myopathy could be diagnosed based on clinical examinations and laboratory tests may be recommended. Currently there is no cure for the disease and symptomatic treatment is used to relieve symptoms and improve quality of life. Bethlem myopathy affects about 1 in 200,000 people. Signs and symptoms
The onset of this disease can begin even before birth but is more commonly in childhood or later into adult life. The progression is slow, with symptoms of weakness and walking difficulties sometimes not presenting until middle age. Early symptoms include Gowers sign ("climbing" up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures.Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrichs myopathy (which does include contractures of arms and legs, as does Bethlem myopathy). Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect a normal life span and continued mobility into adulthood. Diagnosis
The disease could be diagnosed based on a clinical examination, which identifies signs and symptoms generally associated with the people who have the condition. Additional laboratory tests may be recommended.
First aid
Gynecologic hemorrhage needs  to be evaluated as soon as possible by a physician. The amount and duration of bleeding will dictate whether a bleeding event is an emergency event. Treatment
Treatment depends on diagnosis and may include hormonal therapy, iv fluids, blood transfusion, and/or  a dilation and curettage. Internal bleeding requires laparoscopy or abdominal surgery, in rare and extreme cases a hysterectomy is performed. See also
Medical emergency
Istihadha


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