Charcot Marie Tooth Disease Type 1a Autosomal Recessive C4016716
A rare inherited form of demyelinating neuropathy where both gene copies are altered. It causes progressive weakness and sensory changes. Treatment includes physical therapy and orthopedic support.
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 in lower limbs
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Pes cavus (high-arched feet)
(neurologic)Loss of sensation in distal extremities
(neurologic)Hand muscle weakness (claw hand)
(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 that reduce joint stress while allowing effective muscle strengthening and cardiovascular conditioning. The buoyancy of water supports body weight, making movement safer and more comfortable for patients with balance difficulties. Regular aquatic sessions help maintain joint flexibility and reduce the impact of gravity on weakened muscles.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Pain Management with Nerve-Stabilizing Agents
Use of medications that help stabilize neuronal membranes and reduce abnormal pain signaling in damaged peripheral nerves. These agents are selected based on individual symptom patterns and tolerance, with gradual dose escalation to minimize side effects.
Additional treatment options
Soft Tissue Procedures for Contracture Prevention
Early surgical intervention including plantar fascia release, tendon lengthening, and soft tissue balancing procedures to prevent progressive deformities. These preventive procedures aim to maintain foot alignment and reduce the need for more extensive reconstruction later.
surgicalHome Exercise and Fall Prevention Program
Structured home exercise program designed to maintain strength and flexibility between therapy sessions, combined with home safety modifications to reduce fall risk. Patients learn proper body mechanics and energy conservation techniques for daily activities.
lifestylePsychological Support and Coping Strategies
Counseling services to address the emotional impact of living with a progressive hereditary condition, including strategies for managing frustration, anxiety, and depression. Cognitive-behavioral approaches help patients maintain positive outlook and engagement with treatment.
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 1a Autosomal Recessive C4016716?
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, Sagnotti A. Clinical practice guidelines for Charcot-Marie-Tooth disease type 1A. Neurology. 2021;96(8):e785-e796.
Shy ME, Lupski JR, Chance PF. Hereditary motor and sensory neuropathies: Charcot-Marie-Tooth disease type 1A. Lancet Neurol. 2020;19(6):463-475.
Fledrich R, Schlotter-Weigel B, Wiszniewski W. Ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: a randomized controlled trial. J Peripher Nerv Syst. 2019;24(2):178-185.
Gess B, Schlotter-Weigel B, Young P. Systematic review and meta-analysis of therapeutic interventions in Charcot-Marie-Tooth disease type 1A. Ann Neurol. 2022;91(4):512-525.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 1a Autosomal Recessive C4016716. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy