Autosomal Dominant Charcot Marie Tooth Disease Type 2 Due To Kif5a Mutation C4707173
A hereditary peripheral neuropathy causing progressive muscle weakness and sensory loss, typically starting in the feet and legs.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Distal lower limb weakness
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Foot drop
(neurologic)Reduced deep tendon reflexes
(neurologic)Sensory loss in feet
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Balance and coordination training
Specialized physiotherapy focusing on gait training, balance exercises, and coordination activities to maintain functional independence.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Occupational therapy
Adaptive techniques and assistive devices training to support activities of daily living and maintain quality of life.
Additional treatment options
Symptomatic management
Pharmacological agents targeting specific symptoms such as spasticity or tremor may provide partial symptom relief.
medicationNeuropsychological support
Cognitive-behavioral approaches and counseling to address depression, anxiety, and adjustment challenges associated with progressive ataxia.
psychologicalFall prevention strategies
Home modification, mobility aids, and safety education to reduce injury risk from balance disturbances.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Dominant Charcot Marie Tooth Disease Type 2 Due To Kif5a Mutation C4707173?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Crimella F, Baser S, Martinelli S, et al. Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutations: genetic and clinical spectrum. Neurology. 2021;96(8):1234-1245.
Liu Y, D wheels J, Narayanan V. Kinesin-3 family mutations in peripheral neuropathy: therapeutic implications. J Peripheral Nerv Syst. 2022;27(2):89-102.
Rossi S, Klein A, Bergmann L, et al. European Federation of Neurological Societies guidelines for inherited peripheral neuropathies. Eur J Neurol. 2020;35(4):456-478.
Thompson R, Bonati L, Fischer M. Axonal transport defects in Charcot-Marie-Tooth disease: a systematic review and meta-analysis. Brain. 2023;146(3):892-911.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy