Myopathy with hexagonally cross-linked tubular arrays

Kod Orpha: 171889Kod OMIM:

Definicja

Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.

Dane
Klasyfikacja

Choroba

Kod ORPHA
171889
Kod OMIM
-
Kod ICD10
G71.2
Kod ICD11
8C72.0Y

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