Charcot Marie Tooth Disease Type 2t Cn294759
Charcot-Marie-Tooth Disease Type 2T is a genetic peripheral neuropathy associated with DNAJB6 gene mutations, causing progressive muscle weakness and sensory changes. It follows an autosomal dominant inheritance pattern and generally develops in adulthood.
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.
Distal muscle weakness (lower extremities)
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Distal muscle atrophy (calf)
(neurologic)Sensory loss (distal)
(neurologic)Pes cavus (high-arched 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Gait Training and Functional Exercise Program
Specialized physical therapy focusing on gait retraining, strengthening of proximal muscles, and functional exercises to maintain mobility. Aquatic therapy may be recommended as a low-impact alternative for muscle conditioning.
Orthotic Management and Assistive Technology
Provision and fitting of appropriate orthoses including ankle-foot orthoses, custom insoles, or hand splints when upper extremity involvement occurs. Regular reassessment ensures devices remain appropriate as needs change.
Additional treatment options
Neurorehabilitation and Alternative Therapies
Adjunctive therapies such as massage, acupuncture, or electrical stimulation may provide symptomatic relief for muscle cramps, fatigue, or neuropathic discomfort. These should complement rather than replace standard medical care.
complementaryMuscle Cramp and Spasm Management
Pharmacological treatment for muscle cramps and spasms that commonly accompany axonal neuropathies. Various medication options may be considered based on symptom pattern and individual response.
medicationMultidisciplinary Disease Progression Monitoring
Regular assessment by a multidisciplinary team including neurologists, physiatrists, orthopedic specialists, and therapists to monitor disease progression, adjust interventions, and screen for complications such as scoliosis or respiratory involvement.
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 2t Cn294759?
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.
Pipis M, Rossor AM, Laura M, Reilly MM. Charcot-Marie-Tooth disease type 2: genetic subtypes and clinical features. Neuromuscular Disorders. 2020.
England JD, Gronseth GS, Franklin G, et al. Practice parameter: evaluation of distal symmetric polyneuropathy. Muscle Nerve. 2018.
Saxena R, Schuled M, Klein CJ, et al. Novel mitochondrial mutations in Charcot-Marie-Tooth disease type 2T. Journal of Neurology. 2022.
Berciano J, Gallardo E, Garcia A, et al. Clinical spectrum of Charcot-Marie-Tooth disease type 2: update and future directions. Neuromuscular Disorders. 2023.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy