Young adult-onset distal hereditary motor neuropathy

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ORPHA:314485OMIM:619216G12.2
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Overview

Young adult-onset distal hereditary motor neuropathy (also called young adult-onset dHMN) is a rare inherited nerve condition that mainly affects the motor nerves — the nerves that control muscle movement. Unlike some other neuropathies, it typically does not affect sensation (your ability to feel touch, temperature, or pain). The disease usually begins in young adulthood, generally in the late teens to early twenties, and primarily affects the muscles farthest from the center of the body, especially in the hands and feet. This is why it is called "distal" — it starts at the ends of the limbs. People with this condition gradually develop weakness and wasting (atrophy) of the muscles in the lower legs and feet first, which can cause difficulty walking, foot drop (trouble lifting the front of the foot), and problems with balance. Over time, the hands may also become weak, making fine motor tasks like buttoning clothes or writing more difficult. The progression is usually slow, and many people remain able to walk for years or even decades after symptoms begin. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining function for as long as possible. Physical therapy, occupational therapy, orthotic devices (such as ankle-foot braces), and sometimes surgery can help. Research is ongoing to better understand the genetic causes and to develop targeted therapies.

Also known as:

Key symptoms:

Weakness in the feet and lower legsMuscle wasting (shrinking) in the lower legsFoot drop — difficulty lifting the front part of the footDifficulty walking or frequent trippingHigh-arched feet (pes cavus)Hammer toes or other foot deformitiesWeakness in the handsDifficulty with fine motor tasks like writing or buttoningMuscle cramps or twitchingReduced reflexes in the anklesGradual loss of muscle bulk in the handsBalance problems

Inheritance

Autosomal dominant

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

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Young adult-onset distal hereditary motor neuropathy.

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No actively recruiting trials found for Young adult-onset distal hereditary motor neuropathy at this time.

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No specialists are currently listed for Young adult-onset distal hereditary 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 Young adult-onset distal hereditary motor neuropathy.

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Community

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Caregiver Resources

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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 specific gene mutation is causing my condition, and does this affect my prognosis?,How quickly is this condition likely to progress in my case?,What physical therapy or exercise programs do you recommend to maintain my strength?,Are there any clinical trials or new treatments I should know about?,Should my family members be tested for this condition?,What assistive devices or braces might help me now or in the future?,How often should I have follow-up appointments to monitor my condition?

Common questions about Young adult-onset distal hereditary motor neuropathy

What is Young adult-onset distal hereditary motor neuropathy?

Young adult-onset distal hereditary motor neuropathy (also called young adult-onset dHMN) is a rare inherited nerve condition that mainly affects the motor nerves — the nerves that control muscle movement. Unlike some other neuropathies, it typically does not affect sensation (your ability to feel touch, temperature, or pain). The disease usually begins in young adulthood, generally in the late teens to early twenties, and primarily affects the muscles farthest from the center of the body, especially in the hands and feet. This is why it is called "distal" — it starts at the ends of the limbs.

How is Young adult-onset distal hereditary motor neuropathy inherited?

Young adult-onset distal hereditary motor neuropathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Young adult-onset distal hereditary motor neuropathy typically begin?

Typical onset of Young adult-onset distal hereditary motor neuropathy is adult. Age of onset can vary across affected individuals.