Living with Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
A rare inherited condition with nerve weakness in the legs, hearing loss from birth, and mild intellectual disability.
Understanding Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
It starts early, with slowly worsening weakness and wasting in the muscles farthest from the center of the body, without loss of feeling. People are born with hearing loss from nerve damage and have mild intellectual disability, without normal speech development. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Wasting of lower leg and ankle muscles
- Absent ankle reflexes
- No speech development
- Slurred speech (dysarthria)
- Fewer large insulated nerve fibers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: charcot-marie-tooth disease-deafness-intellectual disability syndrome; cmt-deafness-intellectual disability syndrome; deafness with charcot-marie-tooth disease; hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers; hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres; hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome.
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