Neuromuscular disorders : NMD
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Neuromuscul. Disord. · Feb 2003
Case ReportsRecessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. ⋯ This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.
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Neuromuscul. Disord. · Oct 2002
Clinical TrialAn effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy.
The aim of this study was to evaluate the long-term effects in young children with Duchenne dystrophy of an intermittent low dosage regime of prednisolone (0.75 mg/kg per day for 10 days per month, or 10 days on and 10 days off). Six children under 5 years with Duchenne dystrophy have been commenced on this schedule, four of whom have been followed for at least 30 months and are reported here. All four presented with classical Duchenne dystrophy, and had an out-of-frame deletion in the Duchenne gene and absence of dystrophin in their muscle. ⋯ There was no increase in weight, stunting of growth, decreased bone density or any other significant side effects related to the prednisolone. Our current experience suggests that this intermittent, low-dosage prednisolone regime is well tolerated and can be safely given long-term in young children with Duchenne dystrophy. The striking response also suggests that there may be an optimal window for treatment of Duchenne dystrophy in the early stages of the disease.
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Neuromuscul. Disord. · Aug 2002
Diaphragm kinetics during pneumatic belt respiratory assistance: a sonographic study in Duchenne muscular dystrophy.
The principal aim of this study was to demonstrate the usefulness of M-mode sonography as a noninvasive technique to evaluate diaphragm excursion. The secondary aim was to assess the efficacy of pneumatic abdomino-diaphragmatic belt ventilation in patients with Duchenne muscular dystrophy. Using M-mode sonography, we measured the amplitude of diaphragm excursion in seven patients with Duchenne muscular dystrophy in various positions (0 degrees, 45 degrees, 75 degrees ) with and without pneumatic abdomino-diaphragmatic belt respiratory assistance. ⋯ After overnight respiratory assistance, arterial oxygen pressure and arterial oxygen saturation increased significantly, and arterial carbon dioxide pressure decreased from 52+/-6.4 to 46.4+/-4 mmHg. The pneumatic abdomino-diaphragmatic belt significantly improved gas exchanges and ventilation by increasing diaphragm excursion, as was clearly shown by noninvasive M-mode sonography. Indeed, M-mode sonography may be helpful in pneumatic abdomino-diaphragmatic belt pressure adjustment.
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Neuromuscul. Disord. · Nov 2001
Case ReportsValproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency.
A 47-year-old man suffering from a bipolar disorder and intermittent myoglobinuria presented with acute rhabdomyolysis with renal failure after starting therapy with valproic acid. On morphological examination, skeletal muscle revealed increased lipid storage. ⋯ Genetic analysis detected the common Ser113Leu substitution on one allele of the CPT2 gene. We conclude that valproic acid should be avoided in patients with CPT type II deficiency.
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Neuromuscul. Disord. · Sep 2001
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
Malignant hyperthermia is a pharmacogenetic disorder associated with mutations in Ca(2+) regulatory proteins. It manifests as a hypermetabolic crisis triggered by commonly used anesthetics. ⋯ The same A2350T mutation was identified in an Argentinean family with two known fatal MH reactions. Functional analysis in HEK-293 cells revealed an altered Ca(2+) dependence and increased caffeine sensitivity of the expressed mutant protein thus confirming the pathogenic potential of the RYR1 A2350T mutation.