Overview
Demyelinating hereditary motor and sensory neuropathy (also known as demyelinating HMSN, or a form of Charcot-Marie-Tooth disease type 1, CMT1) is a rare inherited nerve disease that affects the protective covering of nerves called myelin. Myelin works like insulation around an electrical wire — when it breaks down, nerve signals slow down or stop working properly. This disease affects both the motor nerves (which control muscle movement) and the sensory nerves (which carry feelings like touch, pain, and temperature). People with this condition usually notice weakness and wasting of muscles, especially in the feet, legs, and hands. They may also have reduced ability to feel sensations, balance problems, and changes in the shape of their feet such as high arches or hammertoes. Symptoms often begin in childhood or early adulthood and slowly get worse over time. There is currently no cure for demyelinating HMSN, but many supportive treatments can help manage symptoms and improve quality of life. Physical therapy, occupational therapy, orthotics (special shoe inserts or braces), and pain management are the main tools used today. With good care, many people live full and active lives, though some may need mobility aids as the disease progresses.
Also known as:
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the hands and forearmsLoss of muscle bulk (muscle wasting) in legs and handsReduced ability to feel touch, pain, or temperature in feet and handsHigh arches in the feet (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent tripping and fallingFoot drop (difficulty lifting the front part of the foot)Balance and coordination problemsReduced or absent reflexes (especially at the ankle)Fatigue with physical activityMild to moderate pain or cramping in the legsSlow nerve conduction speeds on nerve tests
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Demyelinating hereditary motor and sensory neuropathy.
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Rare Disease Specialist
Rare Disease Specialist
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 Demyelinating hereditary motor and sensory neuropathy.
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene is causing my condition, and what does that mean for how my disease will progress?,Should other family members be tested, and what are the chances of passing this on to my children?,What therapies or exercises are most important for me to start right now?,Are there any medications I should avoid because they could make my nerve damage worse?,Are there any clinical trials or research studies I might be eligible to join?,How often should I have follow-up nerve conduction studies or other monitoring tests?,What signs should prompt me to seek urgent medical attention?
Common questions about Demyelinating hereditary motor and sensory neuropathy
What is Demyelinating hereditary motor and sensory neuropathy?
Demyelinating hereditary motor and sensory neuropathy (also known as demyelinating HMSN, or a form of Charcot-Marie-Tooth disease type 1, CMT1) is a rare inherited nerve disease that affects the protective covering of nerves called myelin. Myelin works like insulation around an electrical wire — when it breaks down, nerve signals slow down or stop working properly. This disease affects both the motor nerves (which control muscle movement) and the sensory nerves (which carry feelings like touch, pain, and temperature). People with this condition usually notice weakness and wasting of muscles,
Which specialists treat Demyelinating hereditary motor and sensory neuropathy?
21 specialists and care centers treating Demyelinating hereditary motor and sensory neuropathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.