Periodic paralysis with later-onset distal motor neuropathy

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ORPHA:397750OMIM:500010G72.3
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Overview

Periodic paralysis with later-onset distal motor neuropathy is a very rare genetic condition that affects the nerves and muscles. It combines two distinct problems that appear at different stages of life. In the earlier phase, usually beginning in childhood or adolescence, affected individuals experience episodes of periodic paralysis — sudden attacks of muscle weakness or complete inability to move certain muscles. These episodes can be triggered by factors such as rest after exercise, stress, cold temperatures, or changes in diet. Later in life, typically in adulthood, a second problem develops: distal motor neuropathy. This means the nerves that control muscles in the hands and feet gradually become damaged, leading to progressive weakness and wasting of muscles in the lower legs and hands. This combination of episodic paralysis followed by chronic nerve damage makes the condition particularly challenging. The disease is caused by genetic mutations that affect how nerve and muscle cells function. Treatment is mainly supportive and aimed at managing symptoms. During the paralytic episodes, avoiding known triggers and maintaining proper electrolyte balance can help. For the neuropathy component, physical therapy, occupational therapy, and assistive devices may be needed to maintain function. There is currently no cure, and management focuses on preserving quality of life and mobility as the disease progresses.

Key symptoms:

Episodes of sudden muscle weakness or paralysisInability to move arms or legs during attacksWeakness in the hands and fingers that worsens over timeWeakness in the feet and lower legs that worsens over timeMuscle wasting in the hands and feetDifficulty with fine motor tasks like buttoning clothesFoot drop or difficulty lifting the front of the footMuscle stiffness or crampingFatigue after physical activityReduced reflexes in the ankles and wristsDifficulty walking or balance problemsNumbness or tingling in hands and feet

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Periodic paralysis with later-onset distal motor neuropathy.

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No actively recruiting trials found for Periodic paralysis with later-onset distal motor neuropathy at this time.

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No specialists are currently listed for Periodic paralysis with later-onset distal motor neuropathy.

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 Periodic paralysis with later-onset distal motor neuropathy.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

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

Questions for your doctor

Bring these to your next appointment

  • Q1.What triggers should I avoid to reduce the frequency of paralytic episodes?,Are there medications that can help prevent or reduce the severity of my attacks?,How quickly is the neuropathy likely to progress, and what can I do to slow it down?,Should my family members be tested for this condition?,What physical therapy or rehabilitation programs would be most helpful for me?,Are there any clinical trials or new treatments being studied for this condition?,What should I do during a paralytic episode, and when should I go to the emergency room?

Common questions about Periodic paralysis with later-onset distal motor neuropathy

What is Periodic paralysis with later-onset distal motor neuropathy?

Periodic paralysis with later-onset distal motor neuropathy is a very rare genetic condition that affects the nerves and muscles. It combines two distinct problems that appear at different stages of life. In the earlier phase, usually beginning in childhood or adolescence, affected individuals experience episodes of periodic paralysis — sudden attacks of muscle weakness or complete inability to move certain muscles. These episodes can be triggered by factors such as rest after exercise, stress, cold temperatures, or changes in diet. Later in life, typically in adulthood, a second problem devel

How is Periodic paralysis with later-onset distal motor neuropathy inherited?

Periodic paralysis with later-onset distal motor neuropathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.