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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
This is a genetic disorder (hereditary disorder) affecting the peripheral nervous system, both motor and sensory systems, mainly affecting movement and sensation in the legs and feet and sometimes in the hands and wrists. See further comments below.
Is specific diagnostic evidence required to apply the SOP? – Yes.
This diagnosis requires an opinion from a specialist neurologist with recourse to nerve conduction testing, electromyography and genetic testing.
Are there sub-factors that require specific information? – No.
The only relevant factors are associated with clinical worsening and it is difficult to ascertain that there is clinical worsening in a progressive genetic disorder. There is no specific appropriate clinical management for Charcot-Marie-Tooth disease, and hence any delay in definitive diagnosis of Charcot-Marie-Tooth disease would not materially alter the outcome.
Additional diagnoses that may be covered by SOP
- Peroneal muscular atrophy
Conditions not covered by SOP
- Other hereditary peripheral neuropathies, ICD codes 356.0, 356.2, 356.3
- familial amyloid neuropathy
- hereditary sensory neuropathies
- Refsum disease
- Acquired peripheral neuropathy, ICD codes 357.1-9
If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.
As a result of the nerve disease in the lower limbs, patients may suffer multiple ankle sprains and suffer with foot deformities such as pes cavus and hammer toes. These conditions can be considered integral manifestations of the Charcot-Marie-Tooth disease.
This is a slowly progressive disorder with clinical onset in adolescence or early adulthood, and often has a positive family history of disease.
The SOP on ‘peripheral neuropathy’ excludes ‘hereditary peripheral neuropathies’ which includes Charcot-Marie-Tooth disease.
The ICD codes are (ICD-9 356.1; ICD-10 G60.0).