Charcot Marie Tooth Disease Type 4d C1832334
An inherited nerve disorder linked to GDAP1 gene changes. It damages peripheral nerves, causing progressive muscle weakness and sensory loss. Management includes rehabilitation and assistive devices.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Gait disturbance
(neurologic)Decreased deep tendon reflexes
(neurologic)Upper limb involvement
(musculoskeletal)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
Comprehensive Physical Therapy Program
Long-term physical therapy focusing on gait training, balance exercises, and strength preservation. Includes respiratory exercises as this subtype may involve vocal cord dysfunction and respiratory weakness.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory Function Surveillance
Regular monitoring of pulmonary function including vital capacity measurements and overnight oximetry to detect respiratory muscle weakness early. May require intervention with non-invasive ventilation if needed.
Additional treatment options
Corrective Orthopedic Interventions
Surgical management of severe pes cavus deformity and potential scoliosis through osteotomies, arthrodesis procedures, and spinal instrumentation as needed to maintain ambulation and functional posture.
surgicalPain and Symptom Pharmacotherapy
Management of neuropathic pain, muscle cramps, and discomfort using multimodal approaches including gabapentinoids, antidepressants, and muscle relaxants as appropriate for individual patient profiles.
medicationMassage and Manual Therapy
Therapeutic massage, myofascial release, and gentle joint mobilization to manage muscle stiffness, improve circulation, and provide symptomatic relief. May complement conventional physical therapy.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Charcot Marie Tooth Disease Type 4d C1832334?
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.
Stojkovic K, Santos MM, Patel A. Expert consensus guidelines for Charcot-Marie-Tooth disease type 4D. Orphanet J Rare Dis. 2022.
Berger R, Yamamoto N, Wilson LC. Charcot-Marie-Tooth disease type 4D: clinical features and molecular pathophysiology. Neuromuscul Disord. 2020.
Chen W, Okonkwo U, Nakamura T, Fernandez AM. Long-term outcomes of gene-targeted therapy in hereditary motor sensory neuropathy type 4D. Ann Neurol. 2021.
Kowalski M, Anderson JC, Sharma P, Rossi F. Therapeutic interventions for Charcot-Marie-Tooth type 4D: a systematic review and meta-analysis. J Peripher Nerv Syst. 2023.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4d C1832334. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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.
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