Living with Charcot-Marie-Tooth disease X-linked recessive 5
A rare inherited nerve condition with weakness in the legs, profound hearing loss from birth, and optic nerve damage.
Understanding Charcot-Marie-Tooth disease X-linked recessive 5
It has three main features. Weakness and wasting in the muscles farthest from the center of the body, usually first in the legs, cause foot drop and walking trouble. People also have profound hearing loss that is present before speech develops. They also have optic neuropathy that slowly worsens.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the legs and feet
- Hearing loss
- Optic nerve damage (optic atrophy)
- Absent tendon reflexes
- High foot arches (pes cavus)
- Nerve damage affecting feeling
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PRPS1 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
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); Eye disease specialists (ophthalmologists); 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 CMT Research Foundation 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 PRPS1 gene cause this condition. It is X-linked recessive, which means the gene is on the X chromosome.
Also known as: charcot-marie-tooth disease x-linked recessive type 5; charcot-marie-tooth disease, x-linked recessive, 5; charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive; charcot-marie-tooth disease, x-linked recessive, type 5; charcot-marie-tooth neuropathy x type 5; charcot-marie-tooth neuropathy x-linked recessive 5
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease X-linked recessive 5 · 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 5.
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