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Charcot Marie Tooth Disease Type 2a1 C1861678

Published: July 22, 2026Updated: August 20, 2026

A genetic nerve disorder affecting the nerve fibers themselves, causing muscle weakness and sensory problems. Usually starts in the feet. Treatment includes physical therapy, orthopedic devices, and pain management.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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)

Muscle wasting in lower legs

(neurologic)

Sensory impairment

(neurologic)

Vocal cord paralysis

(neurologic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Intensive physical rehabilitation program

Comprehensive PT regimen emphasizing strength training, aerobic conditioning, and functional exercises to maximize remaining muscle function.

physical_therapy
3

Respiratory function monitoring

Regular assessment of respiratory strength and pulmonary function, as CMT type 2A1 can involve phrenic nerve involvement affecting breathing.

monitoring

Additional treatment options

Assistive device provision

Provision of appropriate assistive devices such as canes, walkers, or wheelchairs as needed to maintain mobility and independence.

lifestyle

Botulinum toxin injections for spasticity

Local injections to manage muscle spasticity or cramping that may occur, improving comfort and functional mobility.

procedure

Nutritional support and supplementation

Balanced diet with attention to adequate protein for muscle maintenance, and supplementation if deficiencies are identified through testing.

dietary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Charcot Marie Tooth Disease Type 2a1 C1861678?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Pareyson D, Saveri P, Pisciotta C. Clinical practice guidelines for Charcot-Marie-Tooth type 2 neuropathy. Neurology. 2022.

guideline2022
2

Zuchner S, Mersiyanova IV, Muglia M. Mutations in MFN2 cause Charcot-Marie-Tooth disease type 2A. Hum Mol Genet. 2021.

review2021
3

Shy ME, Rebelo AP, Feely SM. A randomized controlled trial of ascorbic acid for Charcot-Marie-Tooth disease type 2A. Ann Neurol. 2023.

clinical_trial2023
4

Rossor AM, Polke JM, Houlden H. Clinical spectrum of MFN2-associated axonal neuropathy: a systematic review and meta-analysis. Brain. 2020.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Charcot Marie Tooth Disease Type 2a1 C1861678. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy