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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Genetisk rådgivning er relevant både ved familiære og sporadiske tilfælde af amyotrofisk lateral sklerose

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  1. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

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  2. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

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  3. Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

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  4. Permanent muscle weakness in hypokalemic periodic paralysis

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  5. Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

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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.

Translated title of the contributionGenetic counselling is relevant in familial as well as sporadic cases of amyotrophic lateral sclerosis.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number43
Pages (from-to)V0114023
ISSN1603-6824
Publication statusPublished - 20 Oct 2014

ID: 44772784