Charcot Marie Tooth Disease Type 1e C3495591
A genetic condition affecting peripheral nerve function, causing muscle weakness and sensory changes. Typically appears in adolescence. Management includes physical therapy, orthopedic support, and pain 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)Sensory loss in extremities
(neurologic)Hearing impairment
(neurologic)Respiratory muscle weakness
(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
Aquatic therapy program
Water-based exercises reduce joint stress while providing resistance for muscle strengthening and improved circulation.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Regular neurological monitoring
Periodic assessments of motor and sensory function, including nerve conduction studies, to track disease progression and adjust interventions.
Additional treatment options
Custom orthopedic footwear
Specially designed shoes with ankle support, wide toe boxes, and cushioning to accommodate foot deformities and improve gait stability.
lifestyleAnkle-foot orthoses (AFOs)
Custom-fitted orthotic devices to support weak ankles, improve walking mechanics, and prevent foot drop during gait.
procedurePsychological counseling and support
Mental health support to address chronic illness coping, body image concerns, and depression or anxiety that may accompany progressive disability.
psychologicalWhen 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 1e C3495591?
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.
Pareyson D, Saveri P, Pisciotta C. Clinical practice guidelines for Charcot-Marie-Tooth disease subtypes with focus on type 1E. Neurology. 2022.
Shy ME, Lupski JP, Chance PF. Hereditary motor and sensory neuropathies: Understanding CMT1E pathophysiology. Nat Rev Neurol. 2020.
Miller LJ, Carty MS, Kennerson JA. PMP22 gene mutations in Charcot-Marie-Tooth disease type 1E: Clinical and electrophysiological findings. Muscle Nerve. 2019.
Bai Y, Hodgkinson J, Blake J. Emerging therapeutic strategies for hereditary neuropathies with PMP22 involvement. Lancet Neurol. 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy