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Start free with EleplanGamma-sarcoglycan-related limb-girdle muscular dystrophy R5
ORPHA:353Disease
Also called Autosomal recessive limb-girdle muscular dystrophy type 2C · Gamma-sarcoglycan-related LGMD R5 · Gamma-sarcoglycanopathy · LGMD due to gamma-sarcoglycan deficiency · LGMD type 2C · LGMD2C · Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2C
What it is
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- 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.
Signs and symptoms
Common30–79%
20- Abnormal macrophage morphology
- Broad-based gait
- Calf muscle hypertrophy
- Calf muscle pseudohypertrophy
- Difficulty climbing stairs
- Difficulty running
- Elevated circulating creatine kinase concentration
- EMG: myopathic abnormalities
- EMG: myotonic discharges
- EMG: myotonic runs
- EMG: positive sharp waves
- Frequent falls
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Lumbar hyperlordosis
- Macroglossia
- Right ventricular hypertrophy
- Scapular winging
- Upper limb muscle weakness
- Waddling gait
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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