What are the current guidelines for the referral of patients with suspected Charcot-Marie-Tooth Disease to specialist services?

There are no specific UK NICE or CKS guidelines explicitly addressing referral pathways for suspected Charcot-Marie-Tooth (CMT) disease in the provided context. However, based on general principles for suspected neurological conditions, patients presenting with symptoms suggestive of a peripheral neuropathy such as CMT should be referred for neurological assessment.

Referral indications include:

• Adults with persistent, distally predominant sensory symptoms (e.g., numbness, tingling) and signs suggestive of peripheral neuropathy should be considered for neurological assessment if no clear cause is identified in primary care ².
• Slowly progressive limb weakness or sensory changes warrant referral to neurology for assessment of neuromuscular disorders ².
• Referral should be made urgently if there is evidence of rapidly progressive weakness or bulbar/respiratory involvement, although this is less typical for CMT ².

Therefore, for suspected CMT disease, which is a hereditary peripheral neuropathy characterized by slowly progressive distal weakness and sensory loss, referral to a neurologist for specialist assessment and diagnostic confirmation (including genetic testing and neurophysiology) is appropriate.

Summary: Refer patients with suspected Charcot-Marie-Tooth disease to neurology services for specialist assessment, particularly if they have persistent distal sensory symptoms, slowly progressive limb weakness, or unclear diagnosis after initial investigations in primary care ².