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Start free with EleplanTRAPPC11-related limb-girdle muscular dystrophy R18
ORPHA:369840Disease
Also called Autosomal recessive limb-girdle muscular dystrophy type 2S · LGMD type 2S · LGMD2S · Limb-girdle muscular dystrophy type 2S · TRAPPC11-related LGMD R18
What it is
A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- 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%
18- Abnormal circulating creatine kinase concentration
- Absent speech
- Cataract
- Cerebral white matter atrophy
- Elevated circulating hepatic transaminase concentration
- Gait disturbance
- Hepatomegaly
- Hyperlordosis
- Hyporeflexia
- Intellectual disability, borderline
- Limb-girdle muscular dystrophy
- Muscle fiber atrophy
- Muscle spasm
- Muscular dystrophy
- Myalgia
- Myopathy
- Proximal 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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