Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Bethlem myopathy is an autosomal dominant[1] myopathy, classified as a congenital form of muscular dystrophy,[1] that is caused by a variation in one of the three genes coding for type VI collagen.[1]
Onset begins in childhood, but disease progression is extremely slow, with symptoms of weakness and walking difficulties usually not presenting until past age 50. Early symptoms include Gower’s sign (“climbing” up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures. Bethlem myopathy is an extremely rare disorder, with fewer than 100 families worldwide known to have it. It is sometimes known as “Leonard syndrome” after one of the presenting families. Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich’s myopathy (which does include contractures of arms and legs, as does Bethlem myopathy). Serum creatinine 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. There is currently no cure for this disorder, but the contractures of the legs can be alleviated with heel-cord surgery followed by bracing and regular physical therapy. Repeated surgeries to lengthen the heel cords may be needed as the child grows to adulthood.[1]
[tubepress mode=’tag’, tagValue=’Bethlem myopathy’]