Etiology of Motor Neuron Disorders
Diagnostic Category | Investigation |
---|---|
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 Bacterialtetanus, Lyme Viralpoliomyelitis, herpes zoster Retroviralmyelopathy | CSF examination, culture Lyme titer Anti-viral antibody HTLV-1 titers |
Intoxications, physical agents Toxinslead, aluminum, others Drugsstrychnine, 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 |
Hyperlipidemia | Lipid 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.