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EMG provides objective evidence of extensive muscle denervation not confined to the territory of individual peripheral nerves and nerve roots. CSF is usually normal. Muscle enzymes (e.g., CK) may be elevated.

Several types of secondary motor neuron disorders that resemble ALS are treatable (Table 185-2); therefore all pts should have a careful search for these disorders.

MRI or CT myelography is often required to exclude compressive lesions of the foramen magnum or cervical spine. When involvement is restricted to lower motor neurons only, another important entity is multifocal motor neuropathy with conduction block (MMN). A diffuse, lower motor axonal neuropathy mimicking ALS sometimes evolves in association with hematopoietic disorders such as lymphoma or multiple myeloma; an M-component in serum should prompt consideration of a bone marrow biopsy. Lyme disease may also cause an axonal, lower motor neuropathy, typically with intense proximal limb pain and a CSF pleocytosis. Other treatable disorders that occasionally mimic ALS are chronic lead poisoning and thyrotoxicosis.

Pulmonary function studies may aid in management of ventilation. Swallowing evaluation identifies those at risk for aspiration. Genetic testing is available for superoxide dismutase 1 (SOD1) (20% of FALS) and for rare mutations in other genes.

Treatment: Amyotrophic Lateral Sclerosis

  • There is no treatment that arrests the underlying pathologic process in ALS.
  • The drug riluzole produces modest lengthening of survival; in one trial the survival rate at 18 months with riluzole (100 mg/d) was similar to placebo at 15 months. It may act by diminishing glutamate release and thereby decreasing excitotoxic neuronal cell death. Side effects of riluzole include nausea, dizziness, weight loss, and elevation of liver enzymes.
  • Multiple therapies are presently in clinical trials for ALS including small molecules, mesenchymal stem cells, and immunosuppression; interventions such as antisense oligonucleotides that diminish expression of mutant SOD1 protein are nearing trial for SOD1-mediated ALS.
  • A variety of rehabilitative aids may substantially assist ALS pts. Foot-drop splints facilitate ambulation, and finger extension splints can potentiate grip.
  • Respiratory support may be life-sustaining. For pts who decide against long-term ventilation by tracheostomy, positive-pressure ventilation by mouth or nose provides transient (several weeks) relief from hypercarbia and hypoxia. Also beneficial are respiratory devices that produce an artificial cough; these help to clear airways and prevent aspiration pneumonia.
  • When bulbar disease prevents normal chewing and swallowing, gastrostomy is helpful in restoring normal nutrition and hydration.
  • Speech synthesizers can augment speech when there is advanced bulbar palsy.
  • Web-based information on ALS is offered by the Amyotrophic Lateral Sclerosis Association (www.alsa.org).

For a more detailed discussion, see Brown RH Jr: Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases, Chap. 452, p. 2631, in HPIM-19.

Outline

Section 14. Neurology