congenital muscular dystrophy without intellectual disability
Findings
No curated finding names congenital muscular dystrophy without intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:1040033), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Achilles tendon contractureHPOHP:0001771
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Facial diplegiaHPOHP:0001349
- Frequent (30% to 79% of cases)
- Fatty replacement of skeletal muscle
Show the remaining 14
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Proximal amyotrophyHPOHP:0007126
- Frequent (30% to 79% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
3 names
Resolves to: congenital muscular dystrophy without intellectual disability
- Also called
- CMD without intellectual disabilityCMD-no MRcongenital muscular dystrophy-dystroglycanopathy without intellectual disability