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congenital muscular dystrophy 1B (CMD1B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital muscular dystrophy 1B

MONDO:0011486

Also known as:CMD1BMDC1Bcongenital muscular dystrophy type 1B

Overview

Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.

GeneticsAutosomal recessive

OnsetCHILDHOOD

ResearchLimited published research (3 articles)

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: Achilles tendon contracture, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Generalized muscle hypertrophy, and Facial palsy and 10 more.

Organ System	Phenotype Count	Example Features
Muscles	7	Achilles tendon contracture, Generalized muscle hypertrophy, Progressive muscle deterioration (muscular dystrophy)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 1B.

3 publications have been identified in PubMed for congenital muscular dystrophy 1B. Research spans Basic Science / Preclinical (100%).

Recent Publications

Noguchi A (2026). [PMID: 41380969](https://pubmed.ncbi.nlm.nih.gov/41380969/). *J Biol Chem*. [Basic Science / Preclinical]
Murphy LD (2025). [PMID: 41113823](https://pubmed.ncbi.nlm.nih.gov/41113823/). *RSC Chem Biol*. [Basic Science / Preclinical]
Noel M (2025). [PMID: 39999163](https://pubmed.ncbi.nlm.nih.gov/39999163/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604801

Orphanet

European rare disease database

Orphanet:98893

GARD

Genetic and Rare Diseases Info Center

GARD:12586

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital muscular dystrophy 1B

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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