myosclerosis
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
MONDO:0100225
collagen 6-related myopathy
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MONDO:0100545
hereditary neurological disease
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MONDO:0700223
hereditary skeletal muscle disorder
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congenital myosclerosis, LC6wenthal type
exact
congenital myosclerosis, Löwenthal type
exact
myosclerosis, congenital
exact