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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Inability to walk, Hypoplasia of the brainstem, Severe intellectual disability
Muscles	3	Flexion contracture, Progressive muscle deterioration (muscular dystrophy), Enlarged calf muscles (calf muscle hypertrophy)
Head and neck	2	Facial palsy, Microcephaly
Eyes	2	Developmental cataract, Retinal dystrophy
Heart and blood vessels	2	Abnormal left ventricular function, Heart muscle disease (cardiomyopathy)
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)

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 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1.

127 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1. Research spans Basic Science / Preclinical (26%), Case Report / Case Series (24%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Laboratory research	33	26%
Patient case studies	31	24%
Research summaries	26	20%
Disease patterns and progression	19	15%
New treatment approaches	7	6%
Testing and diagnosis research	5	4%
Clinical study results	5	4%
Other research	1	1%

Recent Publications

Labella B (2026). [PMID: 41252304](https://pubmed.ncbi.nlm.nih.gov/41252304/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Imae R (2026). [PMID: 41917390](https://pubmed.ncbi.nlm.nih.gov/41917390/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Qureshi AM (2026). [PMID: 42083863](https://pubmed.ncbi.nlm.nih.gov/42083863/). *Circ Cardiovasc Interv*. [Clinical Trial Publication]
Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain*. [Clinical Trial Publication]
Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Case Report / Case Series]
Farkašová Iannaccone S (2026). [PMID: 42189382](https://pubmed.ncbi.nlm.nih.gov/42189382/). *Forensic Sci Med Pathol*. [Case Report / Case Series]
Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle Nerve*. [Epidemiology / Natural History]
Quak ZX (2026). [PMID: 42074613](https://pubmed.ncbi.nlm.nih.gov/42074613/). *J Clin Med*. [Review / Meta-Analysis]
López-Márquez A (2026). [PMID: 41287928](https://pubmed.ncbi.nlm.nih.gov/41287928/). *Dis Model Mech*. [Basic Science / Preclinical]
Gaviglio A (2026). [PMID: 40673334](https://pubmed.ncbi.nlm.nih.gov/40673334/). *Crit Rev Clin Lab Sci*. [Review / Meta-Analysis]

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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team