Myosclerosis

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Myosclerosis

Synonyms: Congenital myosclerosis, Löwenthal type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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