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Start free with EleplanDysferlin-related limb-girdle muscular dystrophy R2
ORPHA:268Disease
Also called Autosomal recessive limb-girdle muscular dystrophy type 2B · Dysferlin-related LGMD R2 · LGMD due to dysferlin deficiency · LGMD type 2B · LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency · Limb-girdle muscular dystrophy type 2B
What it is
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Key facts
- Prevalence
- 1-9 / 1 000 000 (United Kingdom)
- Age of onset
- Adolescent, Adult
- 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.
Signs and symptoms
Sometimes5–29%
15- Abnormal EKG
- Calf muscle hypertrophy
- Cardiomegaly
- Difficulty climbing stairs
- Difficulty running
- Hyperlordosis
- Muscular edema
- Neck flexor weakness
and 7 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
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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