Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges
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CASE PRESENTATION
Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges Andrea L. Smith & James W. Teener & Brian C. Callaghan & Jack Harrington & Wendy R. Uhlmann
Received: 14 December 2013 / Accepted: 12 March 2014 # National Society of Genetic Counselors, Inc. 2014
Abstract Amyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co-occurrence of ALS with HD. We present a 57-year-old male with a clinical diagnosis of sporadic ALS in the context of a family history of HD. This case adds to the limited literature regarding individuals with a family history of HD who present with features of ALS. There were several genetic counseling challenges in counseling this patient including the diagnostic consideration of two fatal conditions, complex risk information, the personal and familial implications, and the patient’s inability to communicate verbally or through writing due to disease progression. DNA banking effectively preserved the right of our patient and his wife not to learn his HD genetic status during a stressful time of disease progression while providing the option for family members to learn this information in the future if desired. We present lessons learned and considerations for other clinical genetics professionals who are presented with similar challenging issues.
A. L. Smith (*) Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA e-mail: [email protected] J. W. Teener : B. C. Callaghan Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, USA J. Harrington Department of Social Work, University of Michigan Health System, Ann Arbor, MI, USA W. R. Uhlmann Departments of Internal Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA
Keywords Amyotrophic lateral sclerosis (ALS) . Huntington disease (HD) . Genetic counseling
Background There have been case reports of individuals and families with features of both amyotrophic lateral sclerosis (ALS) and Huntington disease (HD), suggesting that there may be a rare presentation of ALS in individuals with HD (Rubio et al. 1996, Kanai et al. 2008, Papageorgiou et al. 2006, Phukan et al. 2010, Mandrioli et al. 2010, Sadeghian et al. 2011; Tada et al. 2012; Panse 1942; Gasbarrini 1964; Frank and Vuia 1973; Myers et al. 1985; Blin et al. 1992; Rubio et al. 1995; Chettri et al. 2013). These two conditions are typically considered to have little overlap in symptomology, though both conditions are fatal, typically adult-onset neurodegenerative conditions without effective treatment. The type of neurodegeneration, associated clinical features, and genetic basis differ considerably between ALS and HD (Table 1). ALS causes degeneration of the upper and lower motor neurons, which leads to progressive muscle weakness, atrophy, dysarthria, and dysphagia, typically resulting in death due to respira
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