Bethlem Myopathy - Presentation

Presentation

The onset of this disease begins in childhood, but its 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 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. 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.