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Amyotrophic lateral sclerosis
Other Resources UpToDate PubMed

Amyotrophic lateral sclerosis

Contributors: Andrea Wasilewski MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is a rapidly progressive degenerative disease characterized by loss of motor neurons. ALS leads to paralysis and respiratory failure and inevitably results in death. Characteristic findings include muscle atrophy, fasciculations, asymmetric limb weakness, dysarthria, dysphagia, foot drop, dyspnea, and drooling. Presentation is varied and may include findings such as fatigue, muscle cramps, spasticity, neck pain, weight loss, trismus, paralysis, hoarseness, cough, impaired cognition, mood changes, sensory loss, bradypnea, orthostatic hypotension, hypoventilation, hyporeflexia, and hyperreflexia.

The majority of cases occur sporadically without family history. Approximately 5%-10% of cases are genetically inherited. Approximately 15%-20% of familial cases are associated with mutations in the superoxide dismutase-1 (SOD1) gene. ALS is more likely to occur in men, with a peak incidence in the fifth to seventh decade of life. Veterans are more likely to develop the disease. There are some familial forms of ALS that are associated with concomitant frontotemporal dementia.

Patients typically survive 2-5 years following diagnosis.

For more information, see OMIM.

Codes

ICD10CM:
G12.21 – Amyotrophic lateral sclerosis

SNOMEDCT:
86044005 – Amyotrophic lateral sclerosis

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Last Reviewed:10/28/2018
Last Updated:07/21/2020
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Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis : Drooling, Dysarthria, Fasciculations, Foot drop, Muscle atrophy, Unilateral distribution, Dysphagia, Dyspnea
Copyright © 2021 VisualDx®. All rights reserved.