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Start free with EleplanAnoctamin-5-related limb-girdle muscular dystrophy R12
ORPHA:206549Disease
Also called Anoctamin-5-related LGMD R12 · Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD type 2L · LGMD2L · Limb-girdle muscular dystrophy type 2L
What it is
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
Key facts
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
4Common30–79%
19- Abnormality of the calf musculature
- Abnormal muscle fiber morphology
- Elevated circulating creatine kinase concentration
- EMG: axonal abnormality
- EMG: myopathic abnormalities
- EMG: myotonic runs
- EMG: neuropathic changes
- Exercise-induced myalgia
- Fatty replacement of skeletal muscle
- Genu recurvatum
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Internally nucleated skeletal muscle fibers
- Lower limb amyotrophy
- Muscle fiber atrophy
- Muscle fiber splitting
- Pelvic girdle muscle atrophy
- Proximal muscle weakness in upper limbs
- Quadriceps muscle atrophy
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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