Presynaptic congenital myasthenic syndromes

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ORPHA:98914OMIM:618197G70.2
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8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Clinical phenotype terms— hover any for plain English:

Sudden episodic apneaHP:0002882Fatigable weaknessHP:0003473Frontalis muscle weaknessHP:0004661Intermittent episodes of respiratory insufficiency due to muscle weaknessHP:0004889Bulbar palsyHP:0001283
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Presynaptic congenital myasthenic syndromes.

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No actively recruiting trials found for Presynaptic congenital myasthenic syndromes at this time.

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No specialists are currently listed for Presynaptic congenital myasthenic syndromes.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Presynaptic congenital myasthenic syndromes.

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Community

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Latest news about Presynaptic congenital myasthenic syndromes

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Caregiver Resources

NORD Caregiver Resources

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.