Intermediate Charcot-Marie-Tooth disease

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6Specialists8Treatment centers

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

Intermediate Charcot-Marie-Tooth disease (also called Intermediate CMT or I-CMT) is a rare inherited nerve disorder that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It sits between two better-known forms of CMT: the demyelinating type (which damages the protective coating around nerves) and the axonal type (which damages the nerve fibers themselves). In Intermediate CMT, both types of nerve damage occur together, which is why it is called 'intermediate.' This mixed pattern shows up on nerve conduction studies, a test that measures how fast electrical signals travel through nerves. The disease mainly affects the nerves that control movement and sensation in the arms and legs. Over time, people with Intermediate CMT often develop muscle weakness and wasting, especially in the lower legs and feet, along with reduced sensation, balance problems, and foot deformities such as high arches or hammertoes. Symptoms usually begin in childhood or early adulthood but can vary widely between individuals and even within the same family. There is currently no cure for Intermediate CMT. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and pain management are the main tools available. With the right support, many people with Intermediate CMT can live full and active lives, though some may need mobility aids as the disease progresses.

Also known as:

Key symptoms:

Muscle weakness in the lower legs and feetMuscle wasting (shrinking) in the legs and handsReduced ability to feel touch, pain, or temperature in the feet and handsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent tripping and fallsBalance problemsFoot drop (difficulty lifting the front part of the foot when walking)Mild to moderate hand weakness and clumsinessDecreased or absent reflexes in the legsFatigue with physical activityOccasional mild pain or cramping in the legs

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Mar 2025Pelvic Floor Shear-Wave Elastography in Healthy and Pudendal Neuralgia Women

Comenius University

TrialENROLLING BY INVITATION
Jul 2023Comparison of Effectiveness Between Active Release Technique and Hold Relax Technique in Patients With Piriformis Syndrome

Foundation University Islamabad — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Intermediate Charcot-Marie-Tooth disease.

View clinical trials →

No actively recruiting trials found for Intermediate Charcot-Marie-Tooth disease at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Intermediate Charcot-Marie-Tooth disease community →

Specialists

6 foundView all specialists →
EC
Emmanuel COUDEYRE
Specialist
PI on 1 active trial
TD
Thomas Meyer, Prof. Dr.
Berlin
Specialist

Rare Disease Specialist

PI on 2 active trials
NM
Nuran EYVAZ, MD
Specialist
PI on 3 active trials
AM
Ali İzzet AKÇİN, MD
Specialist
PI on 1 active trial1 Intermediate Charcot-Marie-Tooth disease publication
ME
Martyn Ezra
Specialist
PI on 1 active trial1 Intermediate Charcot-Marie-Tooth disease publication
DD
Demirhan Dıracoglu, Prof Dr
Specialist
PI on 1 active trial

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 Intermediate Charcot-Marie-Tooth disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Intermediate Charcot-Marie-Tooth diseaseForum →

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Latest news about Intermediate Charcot-Marie-Tooth disease

Disease timeline:

New recruiting trial: Ultrasound-Guided Carpal Tunnel Infiltration: Comparison Between the Manual Method and a Robot-Assisted Method

A new clinical trial is recruiting patients for Intermediate Charcot-Marie-Tooth disease

New recruiting trial: Comparison of Effectiveness Between Active Release Technique and Hold Relax Technique in Patients With Piriformis Syndrome

A new clinical trial is recruiting patients for Intermediate Charcot-Marie-Tooth disease

New recruiting trial: The Relationship Between Ultrasonographic Findings and Sleep Quality in Carpal Tunnel Syndrome

A new clinical trial is recruiting patients for Intermediate Charcot-Marie-Tooth disease

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.Which specific gene is causing my Intermediate CMT, and what does that mean for my prognosis?,Should other family members be tested, and how is this condition inherited in my family?,What type of physical therapy is most helpful for my specific symptoms?,Are there any clinical trials or research studies I could participate in?,How often should I have nerve conduction studies to monitor disease progression?,What signs should prompt me to seek urgent medical attention?,Are there any medications or activities I should avoid that could make my symptoms worse?

Common questions about Intermediate Charcot-Marie-Tooth disease

What is Intermediate Charcot-Marie-Tooth disease?

Intermediate Charcot-Marie-Tooth disease (also called Intermediate CMT or I-CMT) is a rare inherited nerve disorder that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It sits between two better-known forms of CMT: the demyelinating type (which damages the protective coating around nerves) and the axonal type (which damages the nerve fibers themselves). In Intermediate CMT, both types of nerve damage occur together, which is why it is called 'intermediate.' This mixed pattern shows up on nerve conduction studies, a test that measures how fast electrical s

Which specialists treat Intermediate Charcot-Marie-Tooth disease?

6 specialists and care centers treating Intermediate Charcot-Marie-Tooth disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.