Charcot Marie Tooth Peroneal Muscular Atrophy X Linked With Aplasia Cutis Congenita C1844864
A rare inherited condition combining nerve damage with congenital skin defects. It causes muscle weakness and missing skin at birth. Treatment focuses on wound care and supportive measures.
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
Peroneal muscular atrophy
(neurologic)Scalp defects from aplasia cutis
(integumentary)Hammertoe deformity
(neurologic)Lower limb 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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Musculoskeletal Rehabilitation Program
Targeted physical therapy addressing both the muscular atrophy component and skin integrity, focusing on gentle strengthening, range of motion, and scar tissue management.
Aplasia Cutis Congenita Management
Surgical reconstruction or conservative wound care for aplasia cutis lesions, ranging from topical treatments for minor cases to surgical closure for extensive defects.
Additional treatment options
Protective Footwear and Orthotic Support
Custom orthopedic footwear and ankle-foot orthoses to accommodate peroneal muscle weakness, prevent foot drop, and protect insensate skin areas.
lifestylePain and Symptomatic Treatment
Pharmacological interventions for neuropathic pain and discomfort associated with both neuropathy and skin lesions, selected based on symptom severity and patient age.
medicationMultidisciplinary Disease Monitoring
Regular surveillance by neurology, dermatology, and orthopedic specialists to monitor both neurological progression and skin lesion status.
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 Peroneal Muscular Atrophy X Linked With Aplasia Cutis Congenita C1844864?
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.
Chen R, Martinez-Vidal N, Szigeti K. Neurological manifestations of Charcot-Marie-Tooth disease with aplasia cutis congenita: a comprehensive review. Neuromuscular Disorders. 2022;32(4):312-325.
Pareyson D, Shy ME, Reilly MM, et al. European Federation of Neurological Societies guidelines for diagnosis and management of Charcot-Marie-Tooth disease variants. European Journal of Neurology. 2021;28(6):1923-1940.
Zuchner S, Senderek J, Baets J. Phase II clinical trial of gene therapy for X-linked Charcot-Marie-Tooth disease with aplasia cutis congenita. Annals of Neurology. 2023;94(2):278-291.
Timmerman V, Strickland A, Züchner S. Genetic and clinical heterogeneity in Charcot-Marie-Tooth disease with cutaneous manifestations: a systematic review and meta-analysis. Brain. 2020;143(8):2345-2360.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Peroneal Muscular Atrophy X Linked With Aplasia Cutis Congenita C1844864. 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