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Charcot-Marie-Tooth Disease P009
Current RMA Instruments
|Reasonable Hypothesis SOP||21 of 2015|
|Balance of Probabilities SOP||22 of 2015|
Changes from previous Instruments
- ICD-9-CM Codes: 356.1
- ICD-10-AM Codes: G60.0
The term Charcot-Marie-Tooth disease covers a spectrum of genetic disorders (hereditary disorders) affecting the peripheral nervous system, mainly affecting movement and sensation in the legs and feet and sometimes in the hands and wrists. It manifests with slowly progressive motor symptoms, foot deformities (pes cavus and hammer toes) and lack of positive sensory symptoms despite clear sensory involvement.
Confirming the diagnosis
This diagnosis is made based on clinical manifestations and investigation findings (particularly electrodiagnostic studies and genetic testing).
The relevant medical specialist is a neurologist.
Additional diagnoses that may be covered by SOP
- Hereditary motor sensory neuropathy
- Peroneal muscular atrophy
Conditions not covered by SOP
- Other hereditary peripheral neuropathies:#
- familial amyloid neuropathy
- hereditary sensory autonomic neuropathies
- Refsum disease
- Acquired peripheral neuropathy*
* another SOP applies
# non-SOP condition
Clinical onset is generally in adolescence or early adulthood. The condition most often presents with slowly progressive neuropathy symptoms (distal weakness and muscle wasting with foot drop and pes cavus). Frequent sprained ankles may occur. Sensory symptoms tend to be less prominent. Diagnosis may be delayed.
The only SOP factors concern clinical worsening. Ascertaining clinical worsening in a progressive genetic disorder will be difficult. Supportive therapy is provided. There is no available disease modifying therapy for Charcot-Marie-Tooth disease. Any delay in definitive diagnosis of Charcot-Marie-Tooth disease would not materially alter the outcome.