ATAXIA CLINIC
   • Oriented to diagnostic process more than therapeutic
   • New patient evaluations
     – Complete history and physical exam, past hx, ROS
      • Common problems in ataxia: gait, speech, upper limb problems, 
       visual symptoms.
      • Enquire re: cognitive, epilepsy, visual loss, hearing loss, speech and 
       swallow difficulties, dysautonomic symptoms.
      • Age at onset: gait, speech, upper limb problems, visual. Earliest 
       symptom of ataxic disease
      • Age at key events: device, cane, walker, wheelchair
      • Testing done for systemic issues and results (e.g. ECHO, EKG, 
       angios, endoscopy, malignancy screens etc).
               ATAXIA CLINIC
   • 3 generation family history
    – If +,  phenotypic details in other family members
    – Consangunity
    – History of X-linked MR
   • Perform complete neurological examination
    – Need details to determine of patients have cortical (cognitive, psychiatric, 
     epilepsy), UMN (DTR, Babinski, spasticity), EP (dystonia, tremor, rigidity, 
     bradykinesia, chorea) retinal, brainstem (facial, temporal, tongue, palate, 
     cough, EOM), AHC ,DRG, sleep and muscle dysfunction 
   • Quantify ataxia using SARA and functional stage estimation
   • Review outside labs and record results in template provided; order 
    additional labs
   • Provide final diagnosis to Chuck in consult with attending 
  SYSTEMIC FEATURES THAT MAY AID DIAGNOSIS
  • Cardiomyopathy
  • Diabetes
  • Hepatosplenomegaly (clinical/imaging)
  • Cataracts
  • Icthyosis
  • Telangiectasia
  • Hypogonadism
  • Tendon xanthoma
         ANCILLARY STUDIES IN ATAXIA
   • Imaging: brain and cord MRI (ponto-cerebellar atrophy? 
    Cerebellar atrophy? Cervical cord atrophy? Signal changes: MCP? 
    GP margins? White matter?)
   • Routine labs
    – CBC
    – MP (LFT, renal, lytes)
    – Thyroid
    – CK
    – Vitamin levels (B1, B12, B6)
    – RPR, HIV
   • EMG, EEG, EP
   • Neuro-ophthalmology
           MORE ESOTERIC LABS
   • Antibodies: GAD, gliadin, TTG, thyroperxidase and other thyroid 
    antibodies, paraneoplastic
   • Alpha fetoprotein
   • Vitamin E
   • Lactate/pyruvate
   • VLCFA
   • Ceruloplasmin
   • Phytanic acid
   • Hexosaminidase A
   • Amino acid and organic acid studies
   • Transthyretin isoelectric focusing
   • Bone marrow, skin biopsy, muscle biopsy