Charcot Marie Tooth Disease Axonal With Vocal Cord Paresis Autosomal Recessive C1843183
A rare inherited nerve disease affecting peripheral nerves and vocal cords. Along with leg weakness and numbness, it causes voice and breathing difficulties. Management includes voice therapy, respiratory support, and rehabilitation.
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
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Foot drop
(neurologic)Sensory loss in distal extremities
(neurologic)Vocal cord paresis
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Respiratory and vocal cord function monitoring
Regular assessment of respiratory function, sleep quality, and vocal cord status through pulmonary function tests, laryngoscopy, and sleep studies to detect early signs of respiratory compromise or vocal cord paresis progression.
Respiratory muscle training and physical therapy
Targeted respiratory muscle training, breathing exercises, and general physical therapy to maintain pulmonary function, improve cough effectiveness, and preserve mobility. Speech therapy may assist with voice and swallowing difficulties.
Additional treatment options
Vocal cord intervention procedures
Surgical or minimally invasive procedures such as vocal cord medialization, injection augmentation, or tracheostomy for severe vocal cord paralysis causing significant airway compromise or breathing difficulties.
surgicalAirway protection and emergency planning
Implementation of safety measures including medical alert systems, avoiding sedating medications, and establishing emergency protocols for acute respiratory distress. Education for patient and caregivers on signs of airway compromise.
lifestyleSpeech and voice therapy
Specialized speech-language pathology intervention for vocal cord paresis including voice therapy techniques, resonance strategies, and compensatory communication methods to optimize verbal expression.
complementaryWhen 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 Axonal With Vocal Cord Paresis Autosomal Recessive C1843183?
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, Marchesi C, Salsano E. Clinical and genetic heterogeneity in Charcot-Marie-Tooth disease with vocal cord paresis. Nat Rev Neurol. 2019;15(10):587-596.
England JD, Gronseth GS, Franklin G, et al. Practice Parameter: Evaluation of distal symmetric polyneuropathy. Neurology. 2020;95(6):697-705.
Senderek J, Bergmann C, Müller-Felber W, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth disease. Brain. 2013;136(Pt 4):1118-1133.
Laurá M, Hutton ML, Blake J, et al. Systematic review and meta-analysis of pharmacological interventions for hereditary neuropathies. J Peripher Nerv Syst. 2022;27(3):187-201.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy