Huntington's disease presenting as amyotrophic lateral sclerosis

Abstract

We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington's disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington's disease. This case confirms the rare coexistence of Huntington's disease and motor neuron degeneration.

Key words::

• Huntington's disease
• amyotrophic lateral sclerosis
• motor neuron disease

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.