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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Hypoplasia of the brainstem, Seizure, Profound intellectual disability
Muscles	5	Severe muscular hypotonia, Progressive muscle deterioration (muscular dystrophy), Congenital contracture
Head and neck	3	Cleft palate, Microcephaly, Cleft upper lip
Eyes	2	Cataract, Glaucoma
Bones and joints	2	Sideways curvature of the spine (scoliosis), Skeletal muscle hypertrophy
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Pregnancy and birth	1	Congenital contracture

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 brain and eye anomalies), type A2.

119 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2. Kisho has analyzed 91 by research type. Research spans Other (43%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Other research	39	43%
Research summaries	23	25%
Disease patterns and progression	13	14%
Patient case studies	8	9%
Clinical study results	6	7%
Laboratory research	2	2%

Recent Publications

Donohue GF (2026). [PMID: 41793381](https://pubmed.ncbi.nlm.nih.gov/41793381/). *Eur J Pain*. [Review / Meta-Analysis]
Sheng D (2026). [PMID: 41851046](https://pubmed.ncbi.nlm.nih.gov/41851046/). *Alzheimers Dement*. [Epidemiology / Natural History]
Zhang J (2026). [PMID: 42158226](https://pubmed.ncbi.nlm.nih.gov/42158226/). *Clin Case Rep*. [Case Report / Case Series]
Cyriac J (2026). [PMID: 41324838](https://pubmed.ncbi.nlm.nih.gov/41324838/). *J Relig Health*. [Review / Meta-Analysis]
Jayanna S (2026). [PMID: 41930014](https://pubmed.ncbi.nlm.nih.gov/41930014/). *Oman J Ophthalmol*. [Case Report / Case Series]
Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]
Schroeder RL (2026). [PMID: 41064951](https://pubmed.ncbi.nlm.nih.gov/41064951/). *Vet Pathol*. [Basic Science / Preclinical]
Sugiyama R (2025). [PMID: 39798169](https://pubmed.ncbi.nlm.nih.gov/39798169/). *Neuromuscul Disord*. [Epidemiology / Natural History]
Liu FQ (2025). [PMID: 40186435](https://pubmed.ncbi.nlm.nih.gov/40186435/). *J Ultrasound Med*. [Clinical Trial Publication]
Song JH (2025). [PMID: 40884152](https://pubmed.ncbi.nlm.nih.gov/40884152/). *Int J Psychol*. [Other]

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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team