Neurology Book

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Amyotrophic Lateral SclerosisAka: ALS

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  1. 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
  2. Etiology
    1. Idiopathic in most cases
    2. Autosomal dominant inheritance in 5-10% of cases
  3. Pathophysiology
    1. Upper and lower motor neuron degeneration
    2. Affects anterior horn cells
    3. Subtypes
      1. Progressive Bulbar Palsy
      2. Primary Lateral Sclerosis
      3. Spinal Muscular Atrophy
  4. 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
  5. Signs
    1. Muscle fibrillation and atrophy (upper limbs)
    2. Hyperreflexia
    3. Spasticity of lower limbs
  6. Diagnosis: Electromyogram (EMG)
    1. Muscle fibrillation on mechanical stimulation
    2. Increased duration and amplitude of action potentials
  7. Course
    1. Majority of patients die within 1-3 years of diagnosis
    2. Only 10% survive beyond 5 years
  8. 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)

Amyotrophic Lateral Sclerosis (C0002736)

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.
ConceptsDisease or Syndrome (T047)
ICD9335.20, 335.20
MSHD000690
EnglishALS, ALS - Amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis/Progressive Muscular Atrophy, AMYOTROPHIC SCLEROSIS, Bulbar motor neuron disease, Gehrig Disease, Gehrig's Disease, GEHRIGS DIS, Gehrigs Disease, LOU GEHRIG DIS, Lou Gehrig Disease, Lou Gehrig's disease, LOU GEHRIGS DIS, Lou Gehrigs Disease, MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS
Spanishenfermedad bulbar de la neurona motora, enfermedad de Lou Gehrig, esclerosis lateral amiotrofica
Parent ConceptsMotor Neuron Disease (C0085084), Spinal Cord Diseases (C0037928), Neurodegenerative Disorders (C0524851)
SourcesAOD, COSTAR, CSP, DXP, ICD9CM, LCH, MEDLINEPLUS, MSH, MTH, MTHICD9, NCI, NDFRT, OMIM, QMR, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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