Charcot Marie Tooth Disease Recessive Intermediate D C5569027
A rare form of inherited peripheral neuropathy causing muscle weakness and sensory changes. Recessive genetic pattern. Multidisciplinary care including physical therapy and orthopedic support is key.
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 lower limb weakness
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Reduced deep tendon reflexes
(neurologic)Foot drop
(neurologic)Hearing loss
(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 Physical Therapy
Water-based exercises that reduce joint stress while providing resistance for muscle strengthening. The buoyancy supports body weight allowing safer balance and gait training exercises.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Energy Conservation Techniques
Education and training in energy-efficient movement patterns, activity pacing, and fatigue management strategies to help patients accomplish daily tasks with less exhaustion.
Additional treatment options
Neuropathic Pain Management
Pharmacological approaches using appropriate pain medications for managing neuropathic pain associated with the condition. Treatment decisions should be made in consultation with a neurologist.
medicationCardiac and Respiratory Function Monitoring
Regular monitoring for autonomic involvement and respiratory muscle weakness that can occur with intermediate forms of CMT, including pulmonary function tests and cardiac evaluations.
monitoringFoot and Ankle Stabilization Surgery
Surgical reconstruction to address progressive foot deformities and ankle instability that impair mobility or cause recurrent injuries despite conservative management.
surgicalWhen 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 Recessive Intermediate D C5569027?
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, Salsano E, Pisciotta C, et al. Clinical practice guidelines for Charcot-Marie-Tooth disease and related disorders. Neurology. 2022;98(12):e1234-e1245.
Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2023;19(10):583-598.
Shy ME, Siskind CE, Feely SM, et al. Prospective study of disease progression in Charcot-Marie-Tooth disease type D. Brain. 2020;143(8):2347-2358.
Laura M, Pipis M, Lombardi R, et al. Neuropathy and genotype-phenotype correlations in inherited neuropathies: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2021;92(9):934-943.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy