Overview
Hereditary motor and sensory neuropathy type 5 (HMSN5), also sometimes called Charcot-Marie-Tooth disease with pyramidal features or hereditary spastic paraplegia with peripheral neuropathy, is a rare inherited nerve disease. It affects both the peripheral nervous system (the nerves outside the brain and spinal cord) and the upper motor neurons (nerve pathways inside the spinal cord). This combination is what makes HMSN5 different from more common forms of hereditary neuropathy. The disease causes a slow, progressive loss of normal nerve function. Over time, the nerves that control movement and sensation in the arms and legs stop working properly. People with HMSN5 often experience muscle weakness, stiffness in the legs, and reduced ability to feel sensations like touch, pain, or temperature in their hands and feet. The upper motor neuron involvement causes spasticity, meaning the muscles feel tight and rigid, which can make walking increasingly difficult. There is currently no cure for HMSN5. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life. Physical therapy, occupational therapy, and assistive devices such as braces or walking aids are the main tools used. A team of specialists typically works together to support people living with this condition.
Also known as:
Key symptoms:
Muscle weakness in the legs and feetMuscle stiffness or spasticity, especially in the legsDifficulty walking or an unusual walking patternReduced sensation or numbness in the hands and feetFoot deformities such as high arches (pes cavus) or hammer toesMuscle wasting (shrinking) in the lower legs and handsExaggerated reflexes in the legsBalance problems and frequent tripping or fallingWeakness in the hands affecting grip strengthFatigue with physical activityDifficulty with fine motor tasks like buttoning clothes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Hereditary motor and sensory neuropathy type 5.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hereditary motor and sensory neuropathy type 5.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which gene change is causing my condition, and what does that mean for my family members?,How quickly is this condition likely to progress, and what signs should I watch for?,What therapies or exercises will help me maintain my strength and mobility for as long as possible?,Are there any clinical trials I might be eligible for?,What assistive devices or home modifications would you recommend at this stage?,Should my children or siblings be tested for this condition?,Who else should be on my care team, and how often should I have check-ups?
Common questions about Hereditary motor and sensory neuropathy type 5
What is Hereditary motor and sensory neuropathy type 5?
Hereditary motor and sensory neuropathy type 5 (HMSN5), also sometimes called Charcot-Marie-Tooth disease with pyramidal features or hereditary spastic paraplegia with peripheral neuropathy, is a rare inherited nerve disease. It affects both the peripheral nervous system (the nerves outside the brain and spinal cord) and the upper motor neurons (nerve pathways inside the spinal cord). This combination is what makes HMSN5 different from more common forms of hereditary neuropathy. The disease causes a slow, progressive loss of normal nerve function. Over time, the nerves that control movement a
How is Hereditary motor and sensory neuropathy type 5 inherited?
Hereditary motor and sensory neuropathy type 5 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary motor and sensory neuropathy type 5 typically begin?
Typical onset of Hereditary motor and sensory neuropathy type 5 is juvenile. Age of onset can vary across affected individuals.
Which specialists treat Hereditary motor and sensory neuropathy type 5?
3 specialists and care centers treating Hereditary motor and sensory neuropathy type 5 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.