MovDisordV3, Main, Exploration, bibRecord, 006168

Hereditary essential myoclonus in a large norwegian family

Identifieur interne : 006168 ( Main/Exploration ); précédent : 006167; suivant : 006169

Hereditary essential myoclonus in a large norwegian family

Auteurs : Fahn [États-Unis] ; Ottar Sjaastad [Norvège]

Source :

Movement Disorders [ 0885-3185 ] ; 1991.

RBID : ISTEX:CE2BA24E0AA78AD9CEC915B82CC4E31B5589F6CD

Descripteurs français

Wicri :
- geographic : Norvège.

English descriptors

KwdEn :
- Adolescent, Adult, Alcohol Drinking, Blinking, Child, Child, Preschool, Diagnosis, Differential, Dystonia, Dystonia (diagnosis), Dystonia (genetics), Dystonia (physiopathology), Family, Female, Heredity, Humans, Male, Middle Aged, Myoclonus, Myoclonus (diagnosis), Myoclonus (genetics), Myoclonus (physiopathology), Neck (physiopathology), Norway, Torticollis (diagnosis), Torticollis (physiopathology), Tremor, Tremor (diagnosis), Tremor (genetics), Tremor (physiopathology), Videotape Recording.
MESH :
- geographic : Norway.
- diagnosis : Dystonia, Myoclonus, Torticollis, Tremor.
- genetics : Dystonia, Myoclonus, Tremor.
- physiopathology : Dystonia, Myoclonus, Neck, Torticollis, Tremor.
- Adolescent, Adult, Alcohol Drinking, Blinking, Child, Child, Preschool, Diagnosis, Differential, Family, Female, Humans, Male, Middle Aged, Videotape Recording.

Abstract

We examined 56 members of a large Norwegian family with hereditary essential myoclonus, affecting mainly the neck and upper parts of the body, and inherited in an autosomal‐dominant pattern. We observed definite myoclonus in nine individuals, probable myoclonus in one, and possible myoclonus in one. There were two other living members who had a history compatible with myoclonus but who had developed a permanent remission, so we did not observe the movements, and two who had involuntary movements only with stress. Writing usually increased the myoclonus in the neck and trunk, but did not produce myoclonus in the arm used for writing. Having a conversation with an individual who was aware of being watched would also usually increase the myoclonus. Alcohol ameliorated the myoclonus in many, but not all, affected members. Activities such as walking and concentrating during reading would usually reduce the myoclonus. Three living members with definite myoclonus also had features of mild focal dystonia, either spasmodic torticollis or blepharospasm, indicating that focal dystonia may exist as part of the clinical spectrum in hereditary essential myoclonus. In addition to examining the members of the family, we videotaped them and obtained blood samples for molecular genetic analysis.

Url:

https://api.istex.fr/document/CE2BA24E0AA78AD9CEC915B82CC4E31B5589F6CD/fulltext/pdf

DOI: 10.1002/mds.870060308

Affiliations:

Le document en format XML

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<term>Child, Preschool</term>
<term>Diagnosis, Differential</term>
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<front><div type="abstract" xml:lang="en">We examined 56 members of a large Norwegian family with hereditary essential myoclonus, affecting mainly the neck and upper parts of the body, and inherited in an autosomal‐dominant pattern. We observed definite myoclonus in nine individuals, probable myoclonus in one, and possible myoclonus in one. There were two other living members who had a history compatible with myoclonus but who had developed a permanent remission, so we did not observe the movements, and two who had involuntary movements only with stress. Writing usually increased the myoclonus in the neck and trunk, but did not produce myoclonus in the arm used for writing. Having a conversation with an individual who was aware of being watched would also usually increase the myoclonus. Alcohol ameliorated the myoclonus in many, but not all, affected members. Activities such as walking and concentrating during reading would usually reduce the myoclonus. Three living members with definite myoclonus also had features of mild focal dystonia, either spasmodic torticollis or blepharospasm, indicating that focal dystonia may exist as part of the clinical spectrum in hereditary essential myoclonus. In addition to examining the members of the family, we videotaped them and obtained blood samples for molecular genetic analysis.</div>
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Movement Disorders (revue)

Hereditary essential myoclonus in a large norwegian family

Hereditary essential myoclonus in a large norwegian family

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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