II. Epidemiology

  1. Prevalence: 5-7 per 100,000 worldwide
  2. Gender: More common in men by ratio of 1.5 to 1
  3. Ages affected: 50 to 70 years old

III. Etiology

  1. Idiopathic in most cases
  2. Autosomal Dominant inheritance in 5-10% of cases

IV. Pathophysiology

  1. Upper Motor Neuron and Lower Motor Neuron degeneration
  2. Affects anterior horn cells
  3. Subtypes
    1. Progressive Bulbar Palsy
    2. Primary Lateral Sclerosis
    3. Spinal Muscular Atrophy

V. Symptoms

  1. Muscle aches and Muscle cramps
  2. Weakness of distal upper limbs
  3. Weakness progresses inferiorly (towards feet)
  4. Dysarthria
  5. Dysphagia
  6. Drooling
  7. No sensory deficits

VI. Signs

  1. Muscle fibrillation and atrophy (upper limbs)
  2. Hyperreflexia
  3. Spasticity of lower limbs

VII. Diagnosis: Electromyogram (EMG)

  1. Muscle fibrillation on mechanical stimulation
  2. Increased duration and amplitude of Action Potentials

VIII. Course

  1. Majority of patients die within 1-3 years of diagnosis
  2. Only 10% survive beyond 5 years

IX. Management

  1. Riluzole 50 mg bid
    1. Anti-glutamate properties
    2. Only modest effect at best (extended life 3 months)
    3. Best effect if used early
    4. Very expensive ($700/month)
  2. Vitamin E and Vitamin C
    1. Shown effective in rats but not proven in humans
  3. Immunosuppressants not effective or indicated
  4. Treat at ALS center
    1. Physical Therapy
    2. Occupational Therapy
    3. Dietitian
    4. Neurologist
  5. Symptomatic treatment
    1. Progressive Pseudobulbar palsy
    2. Spontaneous laugh (Tricyclic Antidepressants)

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Ontology: Amyotrophic Lateral Sclerosis (C0002736)

Definition (MEDLINEPLUS)

Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. At first, this causes mild muscle problems. Some people notice

  • Trouble walking or running
  • Trouble writing
  • Speech problems

Eventually, you lose your strength and cannot move. When muscles in your chest fail, you cannot breathe. A breathing machine can help, but most people with ALS die from respiratory failure.

The disease usually strikes between age 40 and 60. More men than women get it. No one knows what causes ALS. It can run in families, but usually it strikes at random. There is no cure. Medicines can relieve symptoms and, sometimes, prolong survival.

NIH: National Institute of Neurological Disorders and Stroke

Definition (NCI) An autosomal dominant inherited form of amyloidosis.
Definition (MSH) A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Definition (CSP) progressive degeneration of the neurons that give rise to the corticospinal tract and of the motor cells of the brain stem and spinal cord, resulting in a deficit of upper and lower motor neurons.
Concepts Disease or Syndrome (T047)
MSH D000690
ICD9 335.20
ICD10 G12.21
SnomedCT 86044005
English Gehrig Disease, Gehrig's Disease, Gehrigs Disease, Lou Gehrig Disease, Lou Gehrig's Disease, ALS, Sclerosis, Amyotrophic Lateral, ALS - Amyotroph lat sclerosis, Amyotrophic Lateral Sclerosis/Progressive Muscular Atrophy, Amyotrophic Lateral Sclerosis, LOU GEHRIGS DIS, GEHRIGS DIS, LOU GEHRIG DIS, MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis (diagnosis), ALS (amyotrophic lateral sclerosis), ALS (Amyotrophic Lateral Sclerosis), Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Amyotrophic sclerosis, Lou-Gehrigs Disease, Disease, Lou-Gehrigs, Amyotrophic Lateral Sclerosis [Disease/Finding], amyotrophic laterals sclerosis, lou gehrig disease, lou gehrigs disease, lou gehrig's disease, Lou Gehrig's disease (ALS), Amytrophic lateral sclerosis, Charcot Disease, Amyotrophic lateral sclerosis, Bulbar motor neuron disease, Lou Gehrig's disease, ALS - Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis (disorder), creeping; palsy, lateral sclerosis; amyotrophy, palsy; creeping, sclerosis; spinal, lateral (amyotrophic), amyotrophy; lateral sclerosis, spinal; sclerosis, lateral (amyotrophic), Motor neuron disease, bulbar
Spanish ALS, enfermedad bulbar de la neurona motora, enfermedad de Lou Gehrig, esclerosis lateral amiotrófica (trastorno), esclerosis lateral amiotrófica, Esclerosis lateral amiotrófica, Enfermedad de la Neurona Motora de la Esclerosis Amiotrófica Lateral, Enfermedad de Lou Gehrig, Esclerosis Amiotrófica Lateral
Japanese ALS, キンイシュクセイソクサクコウカショウ, ALS, Gehrig病, 筋萎縮性側索硬化症, Lou Gehrig病, 側索硬化症-筋萎縮性, 筋萎縮側索硬化, 筋萎縮側索硬化症, 筋萎縮性側索硬化
Swedish Amyotrofisk lateralskleros
Czech amyotrofická laterální skleróza, Amyotrofická laterální skleróza, ALS, Charcotova choroba, Charcotova nemoc, Lou Gehrigova nemoc
Finnish Amyotrofinen lateraaliskleroosi
Italian Morbo di Lou Gehrig, SLA, Malattia del neurone motore, Sclerosi laterale amiotrofica
Polish Stwardnienie boczne zanikowe, Choroba Lou Gehringa
Hungarian Amyotrophiás lateral sclerosis, ALS
Norwegian ALS, Amyotrofisk lateralsklerose, Amyotrofisk lateral sklerose
French Maladie de Gehrig, Sclérose latérale amyotrophique, Maladie de Charcot, Maladie de Lou Gehrig, SLA (Sclérose Latérale Amyotrophique)
Dutch amyotrofie; laterale sclerose, creeping; palsy, laterale sclerose; amyotrofie, palsy; creeping, sclerose; spinaal, lateraal (amyotrofisch), spinaal; sclerose, lateraal (amyotrofisch), amyotrofe laterale sclerose, ALS, Amyotrofische laterale sclerose (ALS), Lou-Gehrig-ziekte, Motoneuronziekte, Sclerose, amyotrofische laterale, Sclerose, laterale, amyotrofische (ALS)
Portuguese Esclerose lateral amiotrófica, Doença de Lou Gehrig, Doença do Neurônio Motor em Esclerose Lateral Amiotrófica, Esclerose Amiotrófica Lateral
German amyotrophische Lateralsklerose, ALS, Amyotrophische Lateralsklerose, Gehrig-Krankheit, Myatrophische Lateralsklerose, Lateralsklerose, amyotrophische, Lateralsklerose, myatrophische, Loe-Gehrig-Krankheit, Motoreuronerkrankung, amyotrophe Lateralsklerose, Charcot-Syndrom II