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Start free with EleplanPOMT1-related limb-girdle muscular dystrophy R11
ORPHA:86812Disease
Also called Autosomal recessive limb-girdle muscular dystrophy type 2K · LGMD type 2K · LGMD2K · Limb-girdle muscular dystrophy type 2K · Limb-girdle muscular dystrophy-intellectual disability syndrome · POMT1-related LGMD R11
What it is
A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
Key facts
- Prevalence
- <1 / 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%
13- Calf muscle hypertrophy
- Centrally nucleated skeletal muscle fibers
- Delayed speech and language development
- Elevated circulating creatine kinase concentration
- Gowers sign
- Increased variability in muscle fiber diameter
- Intellectual disability
- Lumbar hyperlordosis
- Microcephaly
- Muscular dystrophy
- Proximal muscle weakness
- Thigh hypertrophy
- Waddling gait
Sometimes5–29%
17- Abdominal pain
- Autistic behavior
- Cardiomyopathy
- Cough
- Dyspnea
- Easy fatigability
- Generalized amyotrophy
- Impaired visuospatial constructive cognition
and 9 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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