loading...| Preferred Name |
Myosclerosis |
|
| Synonyms |
Congenital myosclerosis, Löwenthal type |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_289380 |
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| alternative_term |
Congenital myosclerosis, Löwenthal type |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
MedDRA:10064584 MeSH:C564968 UMLS:C1850671 ICD-10:G71.8 ICD-11:8C72.1 OMIM:255600 |
|
| label |
Myosclerosis |
|
| notation |
ORPHA:289380 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_289380 |
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| prefLabel |
Myosclerosis |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |