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Start free with EleplanCongenital muscular dystrophy without intellectual disability
ORPHA:370980Disease
Also called CMD without intellectual disability · CMD-no MR · Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
What it is
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
19- Abnormal cerebral white matter morphology
- Achilles tendon contracture
- Cerebellar atrophy
- EMG: myopathic abnormalities
- Facial diplegia
- Fatty replacement of skeletal muscle
- Frequent falls
- Gait disturbance
- Generalized hypotonia
- Generalized muscle weakness
- Limb-girdle muscle atrophy
- Mildly elevated creatine kinase
- Motor delay
- Muscle spasm
- Myalgia
- Neonatal hypotonia
- Proximal amyotrophy
- Reduced muscle fiber alpha dystroglycan
- Tip-toe 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.
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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