What are the key clinical features to consider when diagnosing Charcot-Marie-Tooth Disease in a patient presenting with motor and sensory symptoms?

Key clinical features for diagnosing Charcot-Marie-Tooth (CMT) disease in a patient presenting with motor and sensory symptoms include a slowly progressive distal muscle weakness and atrophy, predominantly affecting the lower limbs initially, with subsequent involvement of the hands. This typically manifests as foot drop, pes cavus (high-arched feet), and hammer toes. Sensory symptoms often include distal sensory loss, particularly of vibration and proprioception, leading to impaired balance. Deep tendon reflexes are usually reduced or absent. Patients may also report distal muscle cramps and foot deformities. Family history of similar symptoms is an important diagnostic clue given the hereditary nature of CMT. Electrophysiological studies often reveal a length-dependent sensorimotor peripheral neuropathy with slowed nerve conduction velocities in demyelinating forms or reduced amplitudes in axonal types. These clinical and electrophysiological features help differentiate CMT from other neuropathies and motor neuron diseases NICE NG127 Pareyson 2004Pareyson et al. 2006Tazir et al. 2014.