Living with Charcot-Marie-Tooth disease X-linked recessive 4
A rare inherited nerve condition, present from birth or early childhood, that affects males, with weakness, hearing loss, and learning differences.
Understanding Charcot-Marie-Tooth disease X-linked recessive 4
It starts between birth and early childhood with slowly worsening weakness and wasting in the muscles farthest from the center of the body, and loss of feeling, mostly in the legs. High foot arches, absent reflexes, and hammertoes are common. Hearing loss and cognitive differences may occur. Females are not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent tendon reflexes
- Nerve damage affecting feeling
- Hearing loss
- High foot arches (pes cavus)
- Rounded upper back (kyphosis)
- Intellectual disability
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.
- 3Consider genetic testing
Changes in AIFM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association and Muscular Dystrophy Association 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: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, Muscular Dystrophy Association
- 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 Hereditary Neuropathy Foundation Inc. 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
Changes in the AIFM1 gene cause this condition. It is X-linked recessive, which means the gene is on the X chromosome.
Also known as: axonal motor sensory neuropathy with deafness and intellectual disability; charcot-marie-tooth disease with deafness and intellectual disability; charcot-marie-tooth disease x-linked recessive type 4; charcot-marie-tooth disease, x-linked recessive, 4; charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia; charcot-marie-tooth neuropathy x type 4
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease X-linked recessive 4 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease X-linked recessive 4 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease X-linked recessive 4 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease X-linked recessive 4 · United States
- 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 X-linked recessive 4.
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