Disease Directory Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Neurological

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Type

Disease

Gene

MTPAP

About Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome is a rare disease catalogued by Orphanet (ORPHA:254343). It is associated with the MTPAP gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome trials.

Search ClinicalTrials.gov for "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" or filter by Orphanet code ORPHA:254343 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:254343)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome. Updated daily.