Overview
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (also called RI-CMTD or CMT-RI-D) is a very rare inherited nerve disorder that belongs to the Charcot-Marie-Tooth (CMT) family of diseases. CMT diseases affect the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. In this particular form, the disease is classified as 'intermediate' because it affects both the protective covering of nerves (myelin) and the nerve fibers themselves (axons), rather than just one or the other. This means that nerve conduction studies show features that fall between the two classic CMT types. People with this condition typically develop progressive muscle weakness and wasting in the feet, lower legs, and hands. Over time, this can lead to difficulty walking, foot deformities such as high arches or hammertoes, and reduced sensation in the extremities. The severity can vary, but symptoms generally begin in childhood or adolescence and slowly worsen over the years. There is currently no cure for this form of CMT. Treatment focuses on managing symptoms and maintaining function. This includes physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research into disease-modifying therapies for CMT diseases is ongoing, but no specific approved treatments exist yet for this subtype.
Also known as:
Key symptoms:
Progressive muscle weakness in the feet and lower legsMuscle weakness in the handsMuscle wasting in the lower legs, giving a thin or 'inverted champagne bottle' appearanceHigh arched feet (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent trippingReduced sensation or numbness in the hands and feetTingling or burning sensations in the extremitiesLoss of balance or coordinationDifficulty with fine motor tasks like buttoning clothesFoot drop (difficulty lifting the front of the foot)Reduced reflexesPossible mild hearing loss in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive intermediate Charcot-Marie-Tooth disease type D.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive intermediate Charcot-Marie-Tooth disease type D.
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 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D.
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.What is the expected progression of this disease in my case or my child's case?,How often should we have nerve conduction studies or other monitoring tests?,What physical therapy program would be most beneficial?,Are there any medications or substances I should avoid because they could worsen nerve damage?,Should other family members be tested for this genetic mutation?,Are there any clinical trials or research studies we could participate in?,What assistive devices or braces would help with daily activities and mobility?
Common questions about Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
What is Autosomal recessive intermediate Charcot-Marie-Tooth disease type D?
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (also called RI-CMTD or CMT-RI-D) is a very rare inherited nerve disorder that belongs to the Charcot-Marie-Tooth (CMT) family of diseases. CMT diseases affect the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. In this particular form, the disease is classified as 'intermediate' because it affects both the protective covering of nerves (myelin) and the nerve fibers themselves (axons), rather than just one or the other. This means that nerve conducti
How is Autosomal recessive intermediate Charcot-Marie-Tooth disease type D inherited?
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive intermediate Charcot-Marie-Tooth disease type D typically begin?
Typical onset of Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is childhood. Age of onset can vary across affected individuals.