Disease Directory Congenital muscular dystrophy with cerebellar involvement
Neurological

Congenital muscular dystrophy with cerebellar involvement

Type

Disease

Gene

POMGNT1, POMT1, POMT2, FKRP, POMK, GMPPB

About Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with cerebellar involvement is a rare disease catalogued by Orphanet (ORPHA:370959). It is associated with the POMGNT1, POMT1, POMT2 genes. 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 Congenital muscular dystrophy with cerebellar involvement trials.

Search ClinicalTrials.gov for "Congenital muscular dystrophy with cerebellar involvement" or filter by Orphanet code ORPHA:370959 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:370959)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Congenital muscular dystrophy with cerebellar involvement trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital muscular dystrophy with cerebellar involvement. Updated daily.