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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Inability to walk, Cerebral cortical atrophy, Low muscle tone (hypotonia), and Severe intellectual disability and others; and sometimes findings: Strabismus, Left ventricular systolic dysfunction, Pigmentary retinopathy, and Thickened left heart wall (left ventricular hypertrophy) and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Cerebral cortical atrophy, Flexion contracture, Low muscle tone (hypotonia)
Brain and nerves	5	Inability to walk, Cerebral cortical atrophy, Severe intellectual disability
Bones and joints	3	Excessive inward curvature of the lower spine (hyperlordosis), Sideways curvature of the spine (scoliosis), Skeletal muscle hypertrophy
Head and neck	2	Facial palsy, Microcephaly
Eyes	2	Strabismus, Pigmentary retinopathy
Heart and blood vessels	2	Left ventricular systolic dysfunction, Thickened left heart wall (left ventricular hypertrophy)
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Lungs and breathing	1	Difficulty breathing (respiratory insufficiency)

Age of onset: at birth.

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 B2.

100 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2. Kisho has analyzed 49 by research type. Research spans Review / Meta-Analysis (22%), Basic Science / Preclinical (22%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	11	22%
Laboratory research	11	22%
Patient case studies	8	16%
Disease patterns and progression	7	14%
Testing and diagnosis research	5	10%
New treatment approaches	5	10%
Other research	1	2%
Clinical study results	1	2%

Recent Publications

Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain*. [Basic Science / Preclinical]
Muelas N (2026). [PMID: 41054283](https://pubmed.ncbi.nlm.nih.gov/41054283/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Risso B (2025). [PMID: 41373710](https://pubmed.ncbi.nlm.nih.gov/41373710/). *Int J Mol Sci*. [Review / Meta-Analysis]
McCarty RM (2025). [PMID: 39923201](https://pubmed.ncbi.nlm.nih.gov/39923201/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Suhl J (2025). [PMID: 40546227](https://pubmed.ncbi.nlm.nih.gov/40546227/). *Muscle Nerve*. [Gene Therapy / Novel Therapeutics]
Madrigal I (2025). [PMID: 40488356](https://pubmed.ncbi.nlm.nih.gov/40488356/). *Neuropathol Appl Neurobiol*. [Case Report / Case Series]
Oswald S (2025). [PMID: 40296707](https://pubmed.ncbi.nlm.nih.gov/40296707/). *J Child Neurol*. [Case Report / Case Series]
Kulsirichawaroj P (2025). [PMID: 40494860](https://pubmed.ncbi.nlm.nih.gov/40494860/). *Pediatr Res*. [Diagnostic / Biomarker]
Trucco F (2025). [PMID: 39231278](https://pubmed.ncbi.nlm.nih.gov/39231278/). *Dev Med Child Neurol*. [Diagnostic / Biomarker]
Straub V (2025). [PMID: 41151001](https://pubmed.ncbi.nlm.nih.gov/41151001/). *Neurology*. [Diagnostic / Biomarker]

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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

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