MovDisordV3, Main, Exploration, bibRecord, 006167

Hereditary paroxysmal ataxia with neuromyotonia

Identifieur interne : 006167 ( Main/Exploration ); précédent : 006166; suivant : 006168

Hereditary paroxysmal ataxia with neuromyotonia

Auteurs : J. Vaamonde [Espagne] ; J. Artieda [Espagne] ; Obeso [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 1991.

RBID : ISTEX:A42A5A2A25EEECBB17BD8D931E36B2868B4FF531

Descripteurs français

Pascal (Inist)
- Ataxie, Electrodiagnostic, Electromyographie, Etude cas, Exploration, Homme, Maladie héréditaire, Muscle strié, Myokymie, Nerf périphérique pathologie, Pseudomyotonie, Système nerveux pathologie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adult, Ataxia, Case study, Electrodiagnosis, Electromyography, Exploration, Female, Genetic disease, Human, Humans, Motor Neurons (physiology), Muscles (innervation), Myokymia, Myotonia Congenita (diagnosis), Myotonia Congenita (genetics), Myotonia Congenita (physiopathology), Nervous system diseases, Neuromyotonia, Paroxysmal ataxia, Peripheral Nerves (physiopathology), Peripheral nerve disease, Pseudomyotonia, Reaction Time (physiology), Sensation (physiology), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (physiopathology), Striated muscle, Synaptic Transmission (physiology).
MESH :
- diagnosis : Myotonia Congenita, Spinocerebellar Degenerations.
- genetics : Myotonia Congenita, Spinocerebellar Degenerations.
- innervation : Muscles.
- physiology : Motor Neurons, Reaction Time, Sensation, Synaptic Transmission.
- physiopathology : Myotonia Congenita, Peripheral Nerves, Spinocerebellar Degenerations.
- Adult, Electromyography, Female, Humans.

Abstract

The clinical manifestations of a patient with hereditary paroxysmal ataxia and neuromyotonia are described. Generalized tremor, triggered by sudden movemnts, and spasms of hand and foot muscles were the main clinical findings. Electromyogram (EMG) and nerve blocking studies led to the diagnosis of neuromyotonia. Treatment with acetozolamide was of no therapeutic value, confirming previous observations about the difference in response of paroxysmal ataxia with and without neuromyotonia.

Url:

https://api.istex.fr/document/A42A5A2A25EEECBB17BD8D931E36B2868B4FF531/fulltext/pdf

DOI: 10.1002/mds.870060218

Affiliations:

Espagne

Le document en format XML

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<term>Genetic disease</term>
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<front><div type="abstract" xml:lang="en">The clinical manifestations of a patient with hereditary paroxysmal ataxia and neuromyotonia are described. Generalized tremor, triggered by sudden movemnts, and spasms of hand and foot muscles were the main clinical findings. Electromyogram (EMG) and nerve blocking studies led to the diagnosis of neuromyotonia. Treatment with acetozolamide was of no therapeutic value, confirming previous observations about the difference in response of paroxysmal ataxia with and without neuromyotonia.</div>
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Movement Disorders (revue)

Hereditary paroxysmal ataxia with neuromyotonia

Hereditary paroxysmal ataxia with neuromyotonia

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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.