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TOR1AIP1-related limb-girdle muscular dystrophy

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Name:
TOR1AIP1-related limb-girdle muscular dystrophy
Description:
A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
ORPHAcode:
424261
Synonyms:
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive muscular dystrophy due to LAP1B deficiency
Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
LGMD type 2Y
LGMD2Y
Muscular dystrophy with progressive weakness, distal contractures and rigid spine
TOR1AIP1-related LGMD
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
TOR1AIP1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14