ALS has to be strongly considered given the presence of lower and upper motor neuron signs. Other differential diagnosis include: hexosaminidase deficiency, cervical radiculomyelopathy, cervical spondylotic myelopathy, cervical spinal cord tumor, traumatic cervical myelopathy, syringomyelia, multifocal motor neuropathy (hyperreflexia is not typical feature), and monomelic amyotrophy (i.e. Hirayama disease).

Click here for EMG and nerve conduction study and click here for cervical spinal MRI. The following were negative or normal: CSF study, ANA, anticardiolipin antibodies, antibodies to SSA, anti SSB, HTLV, HCV,  ds DNA;  genetic testing for Kennedy disease, Hexosaminidase A enzymatic assay.

What is the next course of action? (click here).