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Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.
Features include: Spastic ataxia, Clouding of the cornea (corneal dystrophy), Developmental cataract, and Spinocerebellar tract degeneration and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Clouding of the cornea (corneal dystrophy), Developmental cataract |
Biomarker and diagnostic research for spastic ataxia-corneal dystrophy syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for spastic ataxia-corneal dystrophy syndrome.
17 publications have been identified in PubMed for spastic ataxia-corneal dystrophy syndrome. Research spans Basic Science / Preclinical (29%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (24%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 29% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:06 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Spastic ataxia |
Research summaries
4 |
24% |
Disease patterns and progression | 4 | 24% |
Patient case studies | 2 | 12% |
Other research | 1 | 6% |
Testing and diagnosis research | 1 | 6% |
Lin S (2026). [PMID: 41810893](https://pubmed.ncbi.nlm.nih.gov/41810893/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Syczewska M (2026). [PMID: 41197188](https://pubmed.ncbi.nlm.nih.gov/41197188/). *Gait Posture*. [Basic Science / Preclinical]
Fortin J (2026). [PMID: 41669957](https://pubmed.ncbi.nlm.nih.gov/41669957/). *Mov Disord*. [Epidemiology / Natural History]
Bylstra Y (2026). [PMID: 41520097](https://pubmed.ncbi.nlm.nih.gov/41520097/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Sorenson E (2026). [PMID: 41772409](https://pubmed.ncbi.nlm.nih.gov/41772409/). *Muscle Nerve*. [Diagnostic / Biomarker]
Grech M (2026). [PMID: 42078221](https://pubmed.ncbi.nlm.nih.gov/42078221/). *Cureus*. [Case Report / Case Series]
Li J (2025). [PMID: 40200352](https://pubmed.ncbi.nlm.nih.gov/40200352/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Mertiri L (2025). [PMID: 41320772](https://pubmed.ncbi.nlm.nih.gov/41320772/). *J Neuroimaging*. [Review / Meta-Analysis]
Menicucci L (2025). [PMID: 40753802](https://pubmed.ncbi.nlm.nih.gov/40753802/). *Eur J Paediatr Neurol*. [Epidemiology / Natural History]
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]