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

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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.

Sadly Motor Neuron Disease (MND) and variants can masquerade with initial vague symptoms  but generally mainly motor in character with weakness/wasting/fasciculation and as emphasised many persons experience back/neck pain ..and may ALSO have a serious neurological disorder as well as neck/back pain due to spondylosis which is ubiquitous.

It is wise to  always consider the possibility of  more than one pathological process in one patient at one presentation.Trying to 'shoe horn' a patient's symptoms into one diagnosis may at times be incorrect.

Dr Michael Coroneos is a senior Brisbane Neurosurgeon holding 6 surgical Fellowships. He was honoured in May 2017 after successful completion of 3 examinations and training 2012 to 2017 to elevation to Master CIME status by the prestigious American Board of Independent Medical Examiners(ABIME).He is Chairman of Sunnybank Private Hospital MAC(Healthscope), senior clinical OSCE RACS examiner, Member of Academy of Surgical Educators (RACS), Mortality Assessor RACS (QASM) and Honorary Adjunct Clinical Assistant Professor and Medical School  and Examiner. He holds a number of other health administrative roles/functions.

MCIME  FRACS  FACS(USA)  FRCS(EDIN)SN  FRCS(IRE)  FRCS(ENG)  FRCS(ENG)  MB BS(1st Class Honours, 1980 UQ)  MAPS  MNSA  MNSQ MASE

All patients should  always seek  diagnostic and treatment advice from their treating medical practitioner/s.This article is of academic and general interest intent and is not medical advice.

Assessment of conditions such as peripheral neuropathy are in the province of a specialist neurologist HOWEVER many medical disciplines, particularly neurosurgeons and orthopaedic surgeons, do see patients with at times  apparent atypical sensory acral symptoms and awareness of the prevalence of such conditions is warranted.