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A CASE OF THE DANCER WHO CAN NO LONGER DANCE

A CASE OF THE DANCER WHO CAN NO LONGER DANCE. Cecile L. Phan , M.D., F.R.C.P.C. Yadollah Harati , M.D., F.A.C.P. Clinical history. 72 year old dance instructor: 2 years history of slowly progressive numbness started out in the feet and now the legs feel “lead like”.

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A CASE OF THE DANCER WHO CAN NO LONGER DANCE

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  1. A CASE OF THE DANCER WHO CAN NO LONGER DANCE Cecile L. Phan, M.D., F.R.C.P.C. YadollahHarati, M.D., F.A.C.P.

  2. Clinical history • 72 year old dance instructor: • 2 years history of slowly progressive numbness started out in the feet and now the legs feel “lead like”. • Losing muscle mass in legs and feet. • Feet flapping on the ground • Significant balance problem with frequent falls. • Recently hands became numb and tingling, right hand weak leading to dropping things.

  3. Clinical history • Underwent cervical laminectomy and decompressive surgery without any benefit. • Had high arch feet for years. Recently noticed hammer toes. • Cramps in hands and feet. • Still able to teach dancing but with great difficulty.

  4. Clinical history • Past MHx and SHx • Hypertension • Psoriasis • Allergies: • NKDA • Meds: • Propanolol, HCTZ • Social Hx • Non-contributory

  5. Clinical history • Family history: • Twin brother has similar symptoms: • High arched feet, hammer toes • Numbness up to ankles bilaterally • Burning pain in toes • Balance worsening, fallen couple of times

  6. Clinical examination • General exam normal • Cranial nerves normal • High arched feet, hammer toes • Distal (anterior compartment) > proximal weakness in the legs • Absent reflexes in the legs but generally preserved in the arms • Dense loss of vibratory and proprioceptivesense past the knees and mildly reduced vibratory sense at the DIP’s • Marked sensory ataxia with pseudoathetosis of the feet > hands

  7. Investigations • EMG/NCS (outside) • Moderately severe, mixed axonal and demyelinating, sensorimotorpolyneuropathy affecting legs > arms • vitamin B12, vitamin E, thyroid function, SPEP with immunofixation, anti MAG antibody, HbA1C, rheumatologic profile, RPR were normal or negative. • CSF protein 61 mg/dL

  8. Sural nerve biopsy Semi-thin sections Teased fibers: 40% of fibers showed changes of demyelinating/remyelinating

  9. Treatment • Trial of IV solumedrol – no benefit • CMT genetic testing

  10. Genetic testing • CMT panel: • Periaxin variant: G>C, nucleotide position 134, Codon position 45, arginine>proline • HSPB1 variant: G>A, nucleotide position 9, codon position 3, no amino acid change Both mutations were considered to be “variants of unknown clinical significance”.

  11. Genetic testing • Twin brother: • Identical periaxinmutation • No mutation detected in HSPB1

  12. Periaxin and CMT • Periaxin: • structural protein mainly expressed by myelinating Schwann cells • interacts with dystroglycan complex and linking basal lamina to the Schwann cell cytoskeleton • Contributing to proper compartmentalization and elongation of Schwann cells, and maintenance of myelin sheath

  13. Periaxin and CMT

  14. Back to our case • Phenotype, EMG/NCS and biopsy features are not consistent with CMT 4F • Is the periaxin mutation truly a “variant of unknown clinical significance”? Or.. • Pathogenic for a novel variant of Autosomal Dominant, axonal CMT.

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