Literature DB >> 1647493

Hereditary paroxysmal ataxia with neuromyotonia.

J Vaamonde1, J Artieda, J A Obeso.   

Abstract

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.

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Year:  1991        PMID: 1647493     DOI: 10.1002/mds.870060218

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  7 in total

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3.  Familial paroxysmal ataxia: report of a family.

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Review 6.  Episodic ataxia type 1: a neuronal potassium channelopathy.

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7.  Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

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Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-01-24       Impact factor: 13.654

  7 in total

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