Ugeskrift for laeger
-
Ugeskrift for laeger · Oct 2014
Review[Genetic counselling is relevant in familial as well as sporadic cases of amyotrophic lateral sclerosis].
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease of upper and lower motor neurons which often results in death from respiratory failure within 2-4 years. It has been estimated that 5-10% of ALS patients have a family history with ALS. The genetic background of the disorder is heterogeneous, and recently molecular genetic testing has become increasingly relevant, also in the clinical evaluation. As several genes have been identified in which the pathogenic mutations are characterized by reduced age-dependent penetrance, genetic testing can be relevant to consider, also in isolated cases.
-
Morbid obesity in teenagers has become an increasing problem. Conventional diet has not yet shown effective long-term weight loss. ⋯ Still, surgery performed on adolescents provides ethical challenges such as the unknown long-term prognosis after surgery. Despite these challenges, in cases of severe intractable obesity or development of life-threatening complications due to obesity, surgery should be considered.