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)

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

We describe a patient who presented a progressive asymmetrical parietal syndrome including ideomotor apraxia, hemiinattention, unilateral limb dystonia and myoclonus. The clinical picture of this patient supported the clinical diagnosis of corticobasal degeneration (CBD). However, the neuropathologic examination revealed abundant cortical betaA4-amyloid deposits, and phosphorylated tau accumulation in neuritic plaques, neurofibrillary tangles and neuropil threads corresponding to Alzheimer's disease (AD) stage V of Braak and Braak. This case supports the clinical heterogeneity in AD and the existence of a clinical overlap between AD and CBD.
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PMID:Asymmetric myoclonic parietal syndrome in a patient with Alzheimer's disease mimicking corticobasal degeneration. 1194 Apr 12

During a period of intensive practice, 2 petanque players developed freezing of shoulder flexion impeding boule throwing. This movement disorder was consistent with the diagnosis of task-specific focal dystonia. Polymyography showed that freezing was associated with bursts of low amplitude. In the absence of motor or sensory deficits, a motor apraxia could be considered.
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PMID:Freezing of shoulder flexion impeding boule throwing: a form of task-specific focal dystonia in petanque players. 1236 May 68

We ascertained the prevalence of apraxia of eyelid opening (AEO) in a community located in Puglia, a region of southern Italy. The crude prevalence rate was 59 per million (95% confidence interval, 24-173). AEO coexisted with adult onset blepharospasm in 75% of cases, with atypical parkinsonism in 25% of cases. Among the overall patient population seen at our movement disorders clinic from 1987 to 1997, AEO was isolated in 10 otherwise healthy individuals, associated with adult-onset dystonia in 13 cases, and associated with a parkinsonian syndrome in 9 cases. The frequency of AEO was 10.8% in the dystonia group, and 2.1% in the overall parkinsonian group (Parkinson's disease, 0.7%; progressive supranuclear palsy, 33.3%). In two patients with possible progressive supranuclear palsy, AEO worsened after increasing levodopa dosage or acute apomorphine challenge and disappeared following levodopa discontinuation. AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related.
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PMID:Frequency of apraxia of eyelid opening in the general population and in patients with extrapyramidal disorders. 1254 54

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
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PMID:Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 1261 69

Corticobasal degeneration (CBD) is a movement disorder characterized by early apraxia and asymmetric parkinsonism that responds poorly to anti-Parkinson medications. There are clinical manifestations reflecting dysfunction in both the cerebral cortex and the basal ganglia. Patients typically present between the sixth and seventh decades. Previously, the youngest clinically diagnosed individual was 40 years old. Here we describe a 34-year-old woman who meets the clinical diagnostic criteria for CBD with onset of symptoms at age 28. In this patient, the first symptom was an 'uncooperative' right hand. This was soon followed by right hand dystonia. Symptoms progressed rapidly, and she developed generalized bradykinesia, rigidity, and corticospinal tract signs with preservation of the initial asymmetry. Her symptoms did not respond to a daily dose of 1200 mg of immediate release levodopa. Extensive laboratory workup and brain imaging were normal. Neuropsychological evaluation revealed mild deficits consistent with frontal-subcortical dysfunction. The chronic, progressive course, asymmetric limb rigidity, apraxia, focal dystonia, and lack of response to levodopa suggest CBD. To our knowledge, this is the youngest reported case of clinically probable CBD.
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PMID:The youngest reported case of corticobasal degeneration. 1449 7

A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder.
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PMID:Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation. 1453 29

Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (AFP) levels. We have evaluated 77 families with progressive non-Friedreich ARCA and have identified six families with a phenotype suggestive of AOA2. Linkage was confirmed in all six families, with a maximal lod score of 5.91 at D9S1830. We report the first detailed phenotypic study, including neuropsychological, oculographic and brain imaging investigations, in the largest series of AOA2 patients yet recruited. The mean age at onset was 15.1 +/- 3.8 years. Sensory motor neuropathy (92%) and choreic or dystonic movements (44%) were frequent. Oculomotor apraxia was observed in 56% of patients and characterized by increased horizontal saccade latencies and hypometria. AFP levels were elevated in 100% of the families, making it a useful biological marker. This study shows for the first time that AOA2 can be found in Europe, North Africa and the West Indies, and its relative frequency represents approximately 8% of non-Friedreich ARCA, which is more frequent than ataxia telangiectasia and ataxia with oculomotor apraxia type 1 (AOA1), in our series of adult patients. In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich's ataxia.
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PMID:Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. 1473 55

Primary blepharospasm is an adult-onset focal dystonia characterised by involuntary contractions of the orbicularis oculi muscles. Patients may have various types of movements arising from the different parts of the orbicularis oculi muscle. These include typical blepharospasm associated with Charcot's sign, pretarsal blepharospasm and flickering of the eyelids. Primary blepharospasm may be associated with so-called apraxia of eyelid opening as well as dystonia in the lower face, jaw or cervical muscles. Unless there are clinical clues to a symptomatic cause, adults presenting with blepharospasm do not require extensive aetiological investigation because the condition is rarely due to an identifiable condition. As the aetiology of primary blepharospasm is largely unknown, therapeutic approaches are symptomatic, with type A botulinum toxin being the treatment of choice.
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PMID:Primary blepharospasm: diagnosis and management. 1487 Nov 68

We describe a 34 year old woman presenting with a 25 year history of segmental dystonia with apraxia of eyelid opening, orofacial and focal upper limb dystonia following an episode of meningoencephalitis. Post-encephalitic apraxia of eyelid opening has not been previously reported in the absence of parkinsonian features.
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PMID:Post-encephalitic segmental dystonia with apraxia of eyelid opening. 1503 73


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