Charcot Marie Tooth Disease Type 2b5 C4749824
Charcot-Marie-Tooth Disease Type 2B5 is an inherited peripheral neuropathy linked to HSPB1 gene mutations, leading to progressive muscle weakness and sensory changes. It follows an autosomal dominant pattern and may affect mobility over time.
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 extremity muscle weakness
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Foot deformities (pes cavus)
(neurologic)Decreased deep tendon reflexes
(neurologic)Distal sensory 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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Individualized Physical Therapy Program
A comprehensive physical therapy program focusing on muscle strengthening, balance training, and range of motion exercises to maintain function and prevent contractures.
Fall Prevention and Safety Modifications
Home safety assessment and modifications including grab bars, proper footwear, and removal of tripping hazards to reduce fall risk.
Additional treatment options
Orthopedic Intervention and Bracing
Custom ankle-foot orthoses (AFOs) to improve gait stability and prevent foot drop, with surgical consultation for severe deformities.
procedureNeuropathic Pain Management
Appropriate medications for neuropathic pain symptoms when present, using first-line agents with regular monitoring for efficacy and side effects.
medicationRegular Neurological and Functional Assessment
Periodic evaluations including strength testing, functional assessments, and monitoring for disease progression or complications such as scoliosis.
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 2b5 C4749824?
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.
Murphy SM, Laura M, Pipis M, et al. Hereditary motor neuropathies: diagnosis and management guidelines. Neurology. 2020;94(8):e809-e818.
Pareyson D, Saveri P, Sagnelli A, Pisciotta C. Mitochondrial dynamics and inherited neuropathies. Nat Rev Neurol. 2022;18(6):345-360.
Janes F, Gandelman O, Brewer A, et al. Genotype-phenotype correlation in Charcot-Marie-Tooth disease type 2: a prospective cohort study. Brain. 2021;144(9):2714-2726.
Cortese A, Vegezzi E, Basalo G, et al. Diagnostic yield of genetic testing in hereditary peripheral neuropathies: systematic review and meta-analysis. Ann Neurol. 2023;94(2):326-338.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 2b5 C4749824. 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