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Table 185-2

Etiology of Motor Neuron Disorders

Diagnostic CategoryInvestigation

Structural lesions

Parasagittal or foramen magnum tumors

Cervical spondylosis

Chiari malformation of syrinx

Spinal cord arteriovenous malformation

MRI scan of head (including foramen magnum and cervical spine)

Infections

Bacterial—tetanus, Lyme

Viral—poliomyelitis, herpes zoster

Retroviral—myelopathy

CSF examination, culture

Lyme titer

Anti-viral antibody

HTLV-1 titers

Intoxications, physical agents

Toxins—lead, aluminum, others

Drugs—strychnine, phenytoin

Electric short, x-irradiation

24-h urine for heavy metals

Serum lead level

Immunologic mechanisms

Plasma cell dyscrasias

Autoimmune polyradiculopathy

Motor neuropathy with conduction block

Paraneoplastic

Paracarcinomatous

Complete blood counta

Sedimentation ratea

Total proteina

Anti-GM1 antibodiesa

Anti-Hu antibody

MRI scan, bone marrow biopsy

Metabolic

Hypoglycemia

Hyperparathyroidism

Hyperthyroidism

Deficiency of folate, vitamin B12, vitamin E

Malabsorption

Deficiency of copper, zinc

Mitochondrial dysfunction

Fasting blood sugara

Routine chemistries including calciuma

PTH

Thyroid functiona

Vitamin B12, vitamin E, folatea

Serum zinc, coppera

24-h stool fat, carotene, prothrombin time

Fasting lactate, pyruvate, ammonia

Consider mtDNA

HyperlipidemiaLipid electrophoresis
Hyperglycinuria

Urine and serum amino acids

CSF amino acids

Hereditary disorders

Superoxide dismutase

TDP43

FUS/TLS

Androgen receptor defect (Kennedy's disease)

Hexosaminidase deficiency

Infantile a-glucosidase deficiency (Pompe's disease)

WBC DNA for mutational analysis

aShould be obtained in all cases.

Abbreviations: FUS/TLS, fused in sarcoma/translocated in liposarcoma; HTLV-1, human T-cell lymphotropic virus; PTH, parathyroid.