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Living with Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

A rare inherited nerve condition with weakness in the hands and feet, mild feeling loss, and stiffness.

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Understanding Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare inherited nerve condition affecting movement and feeling.

It causes progressive weakness and muscle loss in the lower arms and legs, mild feeling loss, and high-arched feet (pes cavus). It also involves the pyramidal tract, causing stiffness (spasticity) and brisk reflexes. Spasticity and pain may be the first symptoms. It starts at a variety of ages.

Signs & symptoms

GARD doesn't list a symptom list for this condition, but its summary describes these features:

  • Weakness and muscle loss in the hands and feet
  • Mild loss of feeling
  • High-arched feet
  • Stiffness (spasticity)
  • Brisk reflexes
  • Pain

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in KIF5A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    Charcot-Marie-Tooth Association and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
Expert care
Expert lists: Charcot-Marie-Tooth Association, 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 Charcot-Marie-Tooth Association 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
Bring these questions to your next doctor visit
Which treatments help with stiffness and pain?
Which nerve tests track my condition?
Would KIF5A testing help my relatives?

Quick facts

Symptoms usually starta variety of ages
InheritanceAutosomal Dominant
GenesKIF5A

GARD says changes in the KIF5A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.

GeneticNeurological

Also known as: autosomal dominant charcot-marie-tooth disease type 2 due to kinesin family member 5a mutation; cmt2 due to kif5a mutation

Patient organizations

Source: NIH GARD · Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutationGARD ID 21447 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

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