GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis type 10

Disease characteristics

Excerpted from the GeneReview: TARDBP-Related Amyotrophic Lateral Sclerosis
TARDBP-related amyotrophic lateral sclerosis (TARDBP-related ALS) is characterized by upper motor neuron (UMN) and lower motor neuron (LMN) disease that appears indistinguishable from ALS of other known and unknown causes based on gender ratio, age of onset, symptom distribution, and severity of disease. The male to female ratio is 1.6 to 1. Mean age of onset is 54 ± 12 years. UMN manifestations can include stiffness, spasticity, hyperreflexia, and pseudobulbar affect; LMN manifestations often include weakness accompanied by muscle atrophy, fasciculations, and cramping. Limb-onset occurs in 80% and bulbar-onset in 20%. Affected individuals typically succumb to respiratory failure when phrenic and thoracic motor neurons become severely involved.

Associated genes

Clinical features

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  • Babinski sign
  • Apathy
  • Respiratory insufficiency due to muscle weakness
  • Dysarthria
  • Dysphagia
  • Amyotrophy
  • Emotional lability
  • Stereotypic behavior
  • Disinhibition
  • Spasticity
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