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ORPHA:424261Disease
Also called 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
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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