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Found 16363 matches for
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McArdle's disease
2 July 2018
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Classification and diagnosis of myopathies - An update
2 July 2018
Myopathies are uncommon, even within neurological practice. It is unreasonable to expect general neurologists to have a detailed knowledge of rare conditions that they might only encounter once in a lifetime. But, they must have sufficient knowledge to recognise the basic nature of the problem, to initiate appropriate and avoid inappropriate investigations, and to then point the patient in the right direction for further management. Armed with a simple classification system and a few pointers to the clinical approach, such patients should present an enjoyable, rather than nerve-wracking, challenge.
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Oculopharyngeal muscular dystrophy phenotypic and genotypic studies in a UK population
2 July 2018
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG)6is the normal repeat length. The prevalence of OPMD is greatest in patients of French-Canadian origin. It is not clear if expansion repeat length is a reliable test in other populations. In this study, we analysed the phenotypic and genotypic characteristics of 31 patients with OPMD in the UK. Ptosis was the first reported symptom in two-thirds of the patients, and half of the subjects studied had evidence of ophthalmoplegia. All but one family had a pathological expansion in the PABP2 gene, ranging from (GCG)8to (GCG)13. In contrast to the French-Canadian population, (GCG)10was almost as common as (GCG)9, evidence against a strong founder effect in the UK population. There was a weak association between repeat length and age of disease onset. Patients with longer repeat lengths, such as (GCG)13, developed severe limb weakness early in the disease. We were unable to detect the (GCG)7polymorphism in over 200 normal controls, suggesting that the frequency of this expansion is lower than that found in the French-Canadian population. One family was negative for the expansion. Affected members presented with the classical features of OPMD, namely ptosis, dysphagia and cytoplasmic inclusions on muscle biopsy, although with some atypical features, such as early age of onset, high serum levels of creatine kinase and a profound ophthalmoplegia. This family is an example of a GCG expansion-negative oculopharyngeal syndrome requiring further genetic investigation. We conclude that PABP2 analysis is a reliable non-invasive diagnostic test for OPMD in the UK population.
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Myopathies
2 July 2018
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Myopathies
2 July 2018
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The causes of stroke in the young.
2 July 2018
In a group of 75 patients under the age of 45 years with stroke, ischaemic cerebral infarction was diagnosed in 60 patients and primary intracerebral haemorrhage in 15. Trauma was found to be the commonest identifiable predisposing factor to cerebral infarction, being present in 13 cases (22%). Migraine was the second most commonly identified predisposing factor while atheroma and hypertension were infrequent. Such a high frequency of preceding trauma has not previously been described, perhaps because it is not generally appreciated that the delay between the traumatic event and subsequent stroke may be considerable. The diagnostic management of young stroke patients is considered with particular reference to the indications for specialized cardiac and neuroradiological investigations.