Neuromuscular and Electrodiagnostic Clinic

Dr. Davyd Hooper FRCPC (Physical Medicine and Rehabilitation)

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Motor neuron diseases: diagnostic workup

UMN and LMN Disease   Test   Disease   Test
Cervical and Lumbar spinal stenosis     *MRI C and T spine Paraneoplastic?? (not conclusive link in literature) Lymphoma, Lung *CBC, SPEP *CXR
Mitochondrial cytopathy (case)   *lactate *FIT *Bx/genetics Copper deficiency (case series)   Serum copper, ceruloplasmin, zinc
HSP (Complicated) – LL predominance, possible pes cavus, often younger onset   *Genetic testing AD: spastin AR:spatacsin Adult Polyglucosan Body Disease -S-M PN, neuro bladder, dementia AR: Ashkenazi, German, Italian *nerve biopsy *axillary skin Biopsy
*Brain MRI – WMDz
Post Electrocution   *History Adult Onset Hexosaminidase Def (UMN&LMN, parkinsonism, CB, psychosis, dementia – or combination thereof)   *Hexosaminidase A activity – serum, leucocyte, fibroblast, genetics
Adreno-myeloneuropathy (VLCFA) -onset teens -30’s in males -onset age 20 -55 in females   *VLCFA *EDx HIV (case reports) HIV
LMN Disease   Test   Disease   Test
Multifocal Motor Neuropathy   *antiGM1 antibodies *EDx: CB, demyelination *MRI plexus *Ultrasound Benign Fasciculation Syndrome   *clinical, normal EDX
SpinoBulbar Muscular Atrophy (SBMA)       -Kennedy’s Disease   *genetics *Inclusion Body Myositis   CK, muscle Bx
Radiation induced LMN (plexus or cord)   *history -years – decades delay Hereditary Motor Neuropathy (dHMN = distal) *beware motor predominant CMT *genetics (mostly H&P)
Monomelic Amyotrophy Hirayama, AKA juvenile muscular atrophy (ASIA, upper limb)   *MRI -increased posterior epidural space (flexion/extension views) Adult Onset Hexosaminidase Deficiency (AR) -Psych, cerebellar ataxia   Hexosaminidase A activity – serum, leucocyte, fibroblast, genetics
Spinal muscular atrophy type 4   *genetics (SMN) Lead Poisoning (UE weakness predominant) *Pb levels
Atypical POEMS pure LMN Pmid 25332554 SPEP, UPEP West Nile Virus, Polio Serology
Lyme Disease (mimcs parsonage turner) Serology HIV (case reports) HIV
AIP (acute Intermittant porphyria) -abdominal pain(ileus, constipation) -Psych -stuttering motor neuropathy -bathing suit sensory (may be minor) -case report (Albertyn) Urine: 24h aminolevulinic acid, porphobilinogen Plasma: porphobilinogen deaminase (Tx: IV haem arginate)    
UMN Disease Test Disease Test
Hereditary Spastic Paraparesis (HSP) (un)complicated       HTLV-1 Associated Myelopathy (HAM)   Serology
Adreno-myeloneuropathy (VLCFA) -onset teens -30’s in males -onset age 20 -55 in females   *VLCFA Lathyrism (associated with chickpea consumption)    
Cervical stenosis (myelopathy) – Degenerative, Malignancy   *MRI C spine Multiple Sclerosis   *MR brain, C & T cord *CSF – oligocloncal bands
Syrnigomyelia   *MRI Cspine Chiari Malformation *MRI Cspine
B12, Copper , vitamin E deficiency   Polyglucosan body if UMN predominates  
HIV (vacuolar myelopathy)      
Bulbar Disease Test Disease Test
Myasthenia gravis   *SFEMG, RNS, AChRAb, MuSK SBMA   *genetics
OPMD   *genetics, muscle Bx Inflammatory myopathy   *Ck, muscle Bx
Sarcoid or wegeners Multiple cranial neuropathies   ACE, vasculitic W/U (ESR, ANCA, ANA, CRP) Brainstem Neoplasm, syringobulbia   *MRI brain & C spine
Meningeal based neoplasm   *MRI brain and C Spine    
       
       
       
       

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