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congenital muscular dystrophy without intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital muscular dystrophy without intellectual disability

MONDO:1040033

Also known as:CMD without intellectual disabilityCMD-no MRcongenital muscular dystrophy-dystroglycanopathy without intellectual disability

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Progressive muscle deterioration (muscular dystrophy); and common findings: Motor delay, Shrinkage of the cerebellum (cerebellar atrophy), Generalized hypotonia, and Neonatal hypotonia and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	13	Progressive muscle deterioration (muscular dystrophy), Shrinkage of the cerebellum (cerebellar atrophy), Generalized hypotonia

Diagnosis

Biomarker and diagnostic research for congenital muscular dystrophy without intellectual disability has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 19 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital muscular dystrophy without intellectual disability.

120 publications have been identified in PubMed for congenital muscular dystrophy without intellectual disability. Research spans Review / Meta-Analysis (41%), Epidemiology / Natural History (33%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Research summaries	49	41%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:370980

Questions for Your Care Team

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Kisho

congenital muscular dystrophy without intellectual disability

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital muscular dystrophy without intellectual disability

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications