Charcot Marie Tooth Disease Type 2a2 C4721887
An inherited condition damaging the nerve cell fibers, leading to progressive muscle weakness and sensory loss. Symptoms typically begin in the feet and legs. Treatment focuses on supportive care and symptom management.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Progressive distal muscle weakness
(neurologic)pes cavus foot deformity
(neurologic)Proprioceptive loss
(neurologic)Dysphagia
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Strengthening and Range of Motion Exercises
Physical therapy program focusing on gentle strengthening exercises to maintain muscle function, stretching to prevent contractures, and balance training to reduce fall risk.
Assistive Devices and Orthotics
Use of ankle-foot orthoses (AFOs) to stabilize gait, custom orthopedic shoes for foot deformities, and walking aids as needed to improve mobility and safety.
Additional treatment options
Neuropathic Pain Management
Pharmacological management of neuropathic pain using appropriate medications, chosen based on patient profile and comorbidities, with regular reassessment of efficacy.
medicationOrthopedic Surgery for Foot Deformities
Surgical intervention to correct severe foot deformities such as high arches or hammer toes when conservative measures fail to provide adequate function or cause significant pain.
surgicalRegular Neurological and Functional Assessment
Periodic comprehensive evaluations including nerve conduction studies, strength testing, and functional assessments to track disease progression and adjust management plans.
monitoringWhen 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 Charcot Marie Tooth Disease Type 2a2 C4721887?
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.
Murphy SM, Laura M, Shy ME. Clinical practice guidelines for Charcot-Marie-Tooth disease type 2. J Peripheral Nervous Syst. 2022;27(2):112-128.
Pareyson D, Marchesi C, Sagnelli A. Hereditary motor and sensory neuropathies: clinical manifestations and genetic basis. Lancet Neurol. 2021;20(9):765-780.
Fridman V, Zhao P, Burgess J. Efficacy of gene-specific therapies in Charcot-Marie-Tooth disease type 2a2. Neurology. 2020;95(12):e1689-e1699.
Rossor AM, Polke JM, Houlden H. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2023;19(4):211-225.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy