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SummaryAdult members of a kindred with various cases of Fabry's disease were asked by questionnaire about their attitudes and behaviour towards prospective genetic counselling. All individuals were aware of the fact that the disease occurred in their family and that it is hereditary, but none had a correct understanding of its inheritance. The disease was considered to be severe and the general attitude was that it should be prevented. Elective abortion after prenatal diagnosis was recommended by the majority, but some would prefer to abstain from having children. Prospective counselling was received positively even though it provoked anxiety in some of the counselled persons. The counselling has so far had the result that two heterozygous females asked for prenatal investigation. But when affected male fetuses were detected after prenatal diagnosis abortion was rejected in both cases. The reasons for this were not considered to be typical. It is concluded that prospective genetic counselling for Fabry's disease should be offered to other families, even though it may be expected that some will choose not to prevent further cases.

BACKGROUND: In a Danish family, multiple individuals in five generations present with early‐onset paroxysmal cranial dyskinesia, musculoskeletal abnormalities, and kidney dysfunction. OBJECTIVE: To demonstrate linkage and to identify the underlying genetic cause of disease. METHODS: Genome‐wide single‐nucleotide polymorphisms analysis, Sequence‐Tagged‐Site marker analyses, exome sequencing, and Sanger sequencing were performed. RESULTS: Linkage analyses identified a candidate locus on chromosome 9. Exome sequencing revealed a novel variant in LMX1B present in all affected individuals, logarithm of the odds (LOD) score of z = 6.54, predicted to be damaging. Nail‐patella syndrome (NPS) is caused by pathogenic variants in LMX1B encoding a transcription factor essential to cytoskeletal and kidney growth and dopaminergic and serotonergic network development. NPS is characterized by abnormal musculoskeletal features and kidney dysfunction. Movement disorders have not previously been associated with NPS. CONCLUSIONS: Paroxysmal dyskinesia is a heretofore unrecognized feature of the NPS spectrum. The pathogenic mechanism might relate to aberrant dopaminergic circuits. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society. This article has been contributed to by US Government employees and their work is in the public domain in the USA.