Myosclerosis
Definicija
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.
Pretraga
Pun naziv
Myosclerosis
Kratki naziv
-
Sinonimi
Congenital myosclerosis, Lwenthal type
Orpha broj
289380
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
Nepoznato
Nasleđivanje
Autosomal recessive
Period početka bolesti
-
ICD 10
G71.8
OMIM
255600
UMLS
C1611706
GARD
NULL
MEDDRA
10064584
Tekstualni opis
-
Etiologija
-
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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