GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis type 2

Disease characteristics

Excerpted from the GeneReview: ALS2-Related Disorders
ALS2-related disorders involve retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprise a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile forms without lower motor neuron involvement (juvenile primary lateral sclerosis [JPLS]) to forms with lower motor neuron involvement (autosomal recessive juvenile amyotrophic lateral sclerosis [JALS]). IAHSP is characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome. JPLS is characterized by onset and loss of ability to walk during the second year of life, progressive signs of upper motor neuron disease, wheelchair dependence by adolescence, and later loss of motor speech production. JALS is characterized by onset during childhood (mean age of onset 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, inconstant moderate muscle atrophy, bladder dysfunction, and sensory disturbances; some individuals are bedridden by age 12 to 50 years.

Available tests

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Associated genes

Clinical features

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  • Babinski sign
  • Hyperreflexia
  • Spastic gait
  • Hand muscle atrophy
  • Dysphagia
  • Spasticity of pharyngeal muscles
  • Spasticity of facial muscles
  • Difficulty in tongue movements
  • Spastic tetraparesis
  • Upper motor neuron abnormality
  • Pseudobulbar behavioral symptoms
  • Drooling
  • Abnormality of the lower motor neuron
  • Spastic dysarthria
  • EMG: chronic denervation signs
  • Amyotrophic lateral sclerosis
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