Living with Charcot-Marie-Tooth disease X-linked recessive 2
A rare inherited nerve condition starting in infancy or childhood with weakness in the hands and legs.
Understanding Charcot-Marie-Tooth disease X-linked recessive 2
It starts in infancy or childhood with slowly worsening weakness and wasting in the hands and legs (more in the legs), high foot arches, and absent reflexes. Some people have loss of feeling or intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting in the lower legs
- Foot drop
- Absent tendon reflexes
- Loss of feeling in the hands and feet
- Hand weakness and tremor
- Trouble walking
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
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
GARD says changes in genes cause this condition. It is X-linked recessive, which means the gene is on the X chromosome. No specific gene is listed.
Also known as: charcot marie tooth disease x-linked recessive 2; charcot-marie-tooth disease x-linked recessive type 2; charcot-marie-tooth disease, x-linked recessive, 2; charcot-marie-tooth neuropathy x type 2; charcot-marie-tooth neuropathy x-linked recessive 2; charcot-marie-tooth neuropathy, x-linked recessive, 2
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease X-linked recessive 2 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease X-linked recessive 2 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease X-linked recessive 2 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease X-linked recessive 2 · 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 2.
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