Myopathy with hexagonally cross-linked tubular arrays

Orpha code: 171889OMIM code:

Definition

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.

Disease data
Classification

Disease

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

No additional description.

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