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Start free with EleplanCongenital muscular dystrophy with cerebellar involvement
ORPHA:370959Disease
Also called CMD with cerebellar involvement · CMD-CRB
What it is
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
4Common30–79%
18- Abnormal brainstem morphology
- Abnormal cerebellum morphology
- Abnormality of brain morphology
- Abnormal pyramidal sign
- Calf muscle pseudohypertrophy
- Cerebellar hypoplasia
- Diffuse white matter abnormalities
- Dilated fourth ventricle
- Global developmental delay
- Gray matter heterotopia
- Hydrocephalus
- Hypoplasia of the brainstem
- Lumbar hyperlordosis
- Macroglossia
- Microcephaly
- Proximal muscle weakness
- Skeletal muscle hypertrophy
- Type II lissencephaly
Sometimes5–29%
21- Abnormality iris morphology
- Agenesis of corpus callosum
- Cataract
- Cerebellar cyst
- Clonus
- Coloboma
- Decreased thalamic volume
- Fusion of the cerebellar hemispheres
and 13 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.
Genes
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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