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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Global developmental delay, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly)
Muscles	2	Low muscle tone (hypotonia), Progressive muscle deterioration (muscular dystrophy)
Eyes	2	Retinal dysplasia, Glaucoma

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 a, 8.

108 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8. Kisho has analyzed 41 by research type. Research spans Other (46%), Review / Meta-Analysis (32%), and Clinical Trial Publication (7%).

Research Type	Count	% of Total
Other research	19	46%
Research summaries	13	32%
Clinical study results	3	7%
Patient case studies	2	5%
Disease patterns and progression	2	5%
Testing and diagnosis research	1	2%
Laboratory research	1	2%

Recent Publications

Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]
Campbell JI (2025). [PMID: 39509188](https://pubmed.ncbi.nlm.nih.gov/39509188/). *Curr Opin Pediatr*. [Review / Meta-Analysis]
Simes D (2025). [PMID: 39495636](https://pubmed.ncbi.nlm.nih.gov/39495636/). *Psychother Res*. [Other]
Lee SJ (2025). [PMID: 41188778](https://pubmed.ncbi.nlm.nih.gov/41188778/). *BMC Ophthalmol*. [Case Report / Case Series]
Sharaf-Eldin W (2025). [PMID: 39998573](https://pubmed.ncbi.nlm.nih.gov/39998573/). *J Mol Neurosci*. [Review / Meta-Analysis]
Goodrich J (2025). [PMID: 40925213](https://pubmed.ncbi.nlm.nih.gov/40925213/). *Int J Nurs Stud*. [Other]
Liu FQ (2025). [PMID: 40186435](https://pubmed.ncbi.nlm.nih.gov/40186435/). *J Ultrasound Med*. [Clinical Trial Publication]
McMahon EL (2025). [PMID: 41206319](https://pubmed.ncbi.nlm.nih.gov/41206319/). *Curr Probl Pediatr Adolesc Health Care*. [Review / Meta-Analysis]
Zagari F (2025). [PMID: 41178487](https://pubmed.ncbi.nlm.nih.gov/41178487/). *Acta Otorhinolaryngol Ital*. [Other]
Ishigaki K (2025). [PMID: 40011677](https://pubmed.ncbi.nlm.nih.gov/40011677/). *Sci Rep*. [Basic Science / Preclinical]

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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

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 a, 8

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