Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003635 (apraxia)
 2,817 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cogan (1952) described a syndrome he called congenital ocular motor apraxia. The syndrome is characterized by 1. absence of voluntary gaze movements and fast phase of optokinetic response in horizontal direction, 2. typical jerky head movements in attempted gaze to either side, 3. nomral random movements and 4. normal vertical eye movements. A report is given on this disorder in the case of female twins.
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PMID:[Twins with congenital oculomotor apraxia (Cogan's syndrome)]. 52 47

The presenting features and their subsequent evolution in 36 patients with pathologically proven or clinically probable corticobasal degeneration are described. The most common initial complaint was of a unilateral 'clumsy, stiff or jerky arm' (n = 20). Typically the arm was akinetic, rigid and apraxic. In about a third of these the arm was held in a striking and characteristic fixed dystonic posture. Jerking of the arm, due to action and stimulus-sensitive myoclonus accompanied these symptoms in about a third of the cases. The next most common presentation (n = 10) was difficulty walking due to clumsiness and loss of fine motor control of one leg due to apraxia or dysequilibrium, or a combination of both. Sensory symptoms in the affected arm heralded the onset of illness in three and accompanied a motor disturbance in two cases. Presentation with dysarthria or a behavioural syndrome were rare. The symptoms progressed slowly, usually involving first the ipsilateral arm and leg, but gradually spread to affect all four limbs. After a mean follow-up of 5.2 years (range 2-8 years) gait difficulties and a supranuclear ophthalmoplegia had emerged in most patients and dysarthria and pyramidal signs were common. Higher mental function was relatively preserved in most and a cortical sensory loss was evident in a quarter of cases.
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PMID:Corticobasal degeneration. A clinical study of 36 cases. 2059 45

A single case study of a 58 year-old male with right asymmetric apraxia and akinetic-rigid syndrome is described. Brainimaging scans (MRI, SPECT) indicated asymmetric cortical atrophy compatible with the diagnosis of Corticobasal Degeneration. Reflex myoclonus was absent and myoclonic discharges only appeared in response to pharmacological treatment of limb dystonia and rigidity. Electromyographic evidence of jerky movements was recorded only in the affected right hand and forearm after muscle relaxation, and myoclonus was not preceded by an EEG paroxysm. The cortical components of the correspondent SEPs were not increased in amplitude while LLRs recordings showed a late response over the muscles of the affected side. Furthermore, the duration of post MEP silent period was bilaterally reduced. This single case study report points out that sometimes myoclonus in Corticobasal Degeneration can be masked by the presence of increased muscle tone.
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PMID:Masked myoclonus in corticobasal degeneration: neurophysiological study of a case. 1185 Oct 11