Myoclonus in Ataxia–Telangiectasia

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Myoclonus in childhood.

The term "myoclonus" sounds esoteric, yet it is part of our normal physiology, occurring as a muscle jerk on drowsiness or falling asleep, during rapid eye movement (REM) sleep, and as hiccoughs. Myoclonus is also a developmental feature of the human nervous system, comprising some of the earliest fetal movements. In pathologic settings, myoclonus may be the only neurologic abnormality, as in e...

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Myoclonus in Ataxia–Telangiectasia

BACKGROUND Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. CASE REPORT We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous...

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Spinal myoclonus.

A case of rhythmic myoclonus affecting only the lower part of the body is described. This occurred as an acute self-limiting illness. The changes in the cerebrospinal fluid (CSF) suggested a viral infection. Clinical and electrophysiological findings indicated that the involuntary movements were arising at spinal level and were independent of suprasegmental influences. There are few previously ...

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Propriospinal myoclonus in multiple sclerosis.

The clinical and electrophysiological features of segmental myoclonus affecting the right arm and upper trunk are described in a patient with multiple sclerosis. Electrophysiological studies suggested that the myoclonus was propagated from a generator site in the cervical cord, where lesions were found using MRI. The spread of electromyographic activity in each myoclonic jerk was slow and varia...

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Reflex myoclonus in olivopontocerebellar atrophy.

The presence of reflex myoclonus in response to touching and pin-pricking the wrist or stretching the fingers and to photic stimulation was assessed in 24 patients with a presumed diagnosis of olivopontocerebellar atrophy (OPCA) and in 30 age matched control subjects. Reflex myoclonus to soma-esthetic stimulation was found in 23 patients and in none of the controls. Photic myoclonus was present...

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ژورنال

عنوان ژورنال: Tremor and Other Hyperkinetic Movements

سال: 2015

ISSN: 2160-8288

DOI: 10.5334/tohm.251