Tay-Sachs disease: adult onset type

Evidence-based neurology checklist on tay-sachs disease: adult onset type: Central features Cognitive impairment Cerebellar ataxia Dysarthria Dysphagia Dystonia Seizures Spasticity Neuromuscular features Psychiatric features Triggers for neurological worsening Differential diagnosis Synonym

Central features

  • Cognitive impairment
  • Cerebellar ataxia
  • Dysarthria
  • Dysphagia
  • Dystonia
  • Seizures
  • Spasticity

Neuromuscular features

Psychiatric features

Triggers for neurological worsening

Differential diagnosis

Synonym

References

  1. Shapiro BE, Logigian EL, Kolodny EH, Pastores GM. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve 2008; 38:1012-1015. 
  2. Fullam S, Togher Z, Power A, et al. Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series. Eur J Neurol 2024; 31:e16069.
  3. Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR. Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment. Neurology 2006; 67:875-877.
  4. Praline J, Guennoc AM, Vourc'h P, Sedel F, Andres CR, Corcia P. Late onset Tay-Sachs disease may mimic adult SMA. Rev Neurol (Paris) 2011; 167:549-550. 
  5. Godeiro-Junior C, Felicio AC, Benites V, Chieia MA, Oliveira AS. Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. Arq Neuropsiquiatr 2009; 67:105-106. 
  6. And 1 more. Subscribe to see the full list

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