• Charcot-Marie-Tooth Disease variants:1 in 2,500 : motor & sensory symptoms in young patient ?

    31 October at 14:36 from atlas

    As neurosurgeons,and orthopaedic surgeons, we regularly see patients with upper and lower symptoms ,as well as neck or back pain.They are referred to the neurosurgeon in many cases because of the axial spinal pain ,rather than a neurologist ,as the spinal symptoms suggest the origin of the extremity neurology is spinal.We should perform and document thorough clinical,musculo-skeletal and neurological examination findings and we should perform MRI scans.We often find degeneration which may explain the axial spinal pain. 30-40% of asymptomatic adults have disc protrusions and >50% have other signs of degeneration.We sometimes find no significant neural abnormality.If we find no neural pathology on MR sometimes the surgeon may dismiss the acral neurological symptoms(and signs).

    However, the incidence of causes for the upper and /or lower limb symptoms and signs not  apparent on MR of brain/spine because the pathology is in the periphery is significant. 1 in 2,500 patients have chart-marie-tooth Disease (there are variants) and present with motor AND sensory symptoms and signs. Typical findings remembered from medical school includes the 'inverted champagne bottle' appearance of the legs due to calf wasting in excess of thigh wasting.it is good practice to measure leg circumference and have a good careful look at the lower limbs! 

    Other causes for non-MRI explained neurological symptoms and signs includes the myriad of peripheral neuropathic/myopathic processes.My messages : (i) always examine patients thoroughly and look at upper and lower limbs and look for fasciculation, subtle weakness,asymmetry and document,even though we may feel that is not a neurosurgeon/orthopaedic surgeon's 'role', and (ii) Recommend (or perform) REFERRAL to a specialist neurologist for re-examination and NCS/EMG if there is no 'surgical' correlate for the extremity neurological symptoms and signs. The concept of 'referred' acral symptomatology is often unsound.

    Please refer to the attached excellent link on CMT and variants-always good to refresh! Sadly Motor Neuron Disease (MND) and variants can masquerade with initial vague symptoms and as emphasised many persons experience back/neck pain ..and may ALSO have a serious neurological disorder as well as neck/back pain.It is wise to consider more than one pathological process in one patient at one presentation.

    Dr Michael Coroneos is a senior Brisbane Neurosurgeon.


    Senior RACS Clinical Examiner.

    All patients should seek treatment advice from their treating medical practitioner/s.