Amyotrophic Lateral Sclerosis (ALS)

Etiology

Largely Unknown

Probably Genetic & Environmental (Multi-factorial)

Sporadic ALS (90%)

Familial ALS (5-10%)

-Mutation in more than a dozen genes suspected
-chromosome 9 open reading frame 72 (C9ORF72) gene
-superoxide dismutase 1 (SOD1) gene

Epidemiology

-As at 2016, 14,000-15,000 Americans have ALS
-2-3 per 100,000 of the US population
-Symptoms commonly develop between ages 55-75
-Incidence is slightly higher in men than women
-Caucasians and non-hispanics most at risk
-Listed as a military service connected disease by the VA

Diagnosis made by eliminating other conditions

-Nerve Conduction Velocity (NCV) test
-Electromyography (EMG) test

-Magnetic Resonance Imaging (MRI)
-Blood tests
-Lumbar puncture

Muscle biopsy (done if presentation is atypical)

Treatment & Management

-Focus is on maintaining quality of life
-Control symptoms
-Prevent Complications
-Providing adaptive devices to increase mobility and optimize self care

Collaborative Team

-Dietician
-Physical therapy
-Occupational & speech therapy
-May need respiratory care

Medication

-Riluzole (Rilutek)
Effective in slowing disease progression

Antispasmodics

-Baclofen (Lioresal)
-Dantrolene Sodium (Dantrium)
-Diazepam (Valium)

NSAIDS & Analgesics

-Ibuprofen
-Naproxen
Tramadol (Ultram)

Antidepressants recommended, high incidence of depression with ALS

Clinical Manifestations

-Difficulty swallowing (dysphagia)
-Difficulty chewing
-Slurred and nasal speech (dysarthria)
-Fatigue
--Muscle cramps
-Tight and stiff muscles (spasticity)

Fasciculations (muscle twitches)

-Arms
-Legs
-Shoulder
-Tongue

Muscle Weakness

-Arms
-Legs
-Neck
-Diaphragm