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Novel GNAL mutations in two German patients with sporadic dystonia

Julia Ziegan1, Matthias Wittstock, Ana Westenberger

  • 1Department of Neurology, University of Rostock, Germany; Institute of Neurogenetics, University of Lübeck, Germany.

Movement Disorders : Official Journal of the Movement Disorder Society
|November 11, 2014
PubMed
Abstract

No abstract available in PubMed .

Keywords:
GNALcervicaldeep brain stimulationdystonia

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Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
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Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
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