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Hereditary paroxysmal ataxia with neuromyotonia

✍ Scribed by J. Vaamonde; J. Artieda; Dr. J. A. Obeso

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
222 KB
Volume
6
Category
Article
ISSN
0885-3185

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✦ Synopsis

The clinical manifestations of a patient with hereditary paroxysmal ataxia and neuromyotonia are described. Generalized tremor, triggered by sudden movements, 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.

πŸ“œ SIMILAR VOLUMES

Acetazolamide responsive hereditary paro
Acetazolamide responsive hereditary paroxysmal ataxia
✍ Dr. J. H. Friedman; P. A. Hollmann πŸ“‚ Article πŸ“… 1987 πŸ› John Wiley and Sons 🌐 English βš– 347 KB

The fourteenth family with an apparently autosomal dominant paroxysmal ataxia is described. As in the seven families described since 1978, acetazolamide completely cured the attacks. A possible mechanism of action of acetazolamide is discussed.

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The purpose of this study was to further characterize neuromyotonia in mice with deletions and point mutations of myelin protein genes. Clinical observation showed irregular stretching of the hindlimbs, tremor and generalized myokymia in mice with targeted deletions of the genes encoding myelin prot