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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The role of clinical and magnetic resonance imaging (MRI) features on the prognosis of acute transverse myelitis has been studied, but the role of electromyography (EMG) changes, although reported, has not been investigated. Seventeen patients with acute transverse myelitis were subjected to clinical evaluation, MRI scanning and concentric needle EMG. The outcome was defined on the basis of a 3-month Barthel Index (BI) score as good or poor. The EMG changes in these groups were compared. All of the patients had complete paraplegia (power grade 0), except 1 who had grade III power. Mild upper limb weakness was present in 6 patients. Joint position and vibration sense were impaired in the lower limbs, and a horizontal limit to sensory loss to pinprick was present in all of the patients. Spinal MRI was abnormal in 12 of 14 patients. EMG of the lower limb muscles in the acute stage (within 15-30 days of onset) revealed fibrillations or sharp waves or both in 11 patients. At 3-month follow-up, the lower limb power had improved in 8 and upper limbs in all 6 patients. The EMG changes also improved in 6 patients; fibrillations either disappeared or were markedly reduced. The motor unit potentials (MUPs) were of long duration, polyphasic with reduced recruitment. In 5 patients, however, no MUPs could be recorded and fibrillations persisted. Lower limb hypotonia and fibrillations on EMG were significantly related to the 3-month outcome. EMG evidence of denervation in the lower limb muscles in acute transverse myelitis suggests a poor outcome as assessed by 3-month Barthel index score.
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PMID:Can electromyography predict the prognosis of transverse myelitis? 980 44

Large families with congenital muscular dystrophy are rare. We report a clinical, histopathological, immunocytochemical, electrophysiological, radiological and genetic study of 10 cases affected by "pure" CMD belonging to two generations of a large inbred Palestinian family. The disease showed autosomal recessive inheritance. All patients had generalised muscular weakness and hypotonia at birth without arthrogryposis. They had a relatively benign clinical course with stabilisation of the clinical picture at different ages and at variable degrees of severity. The pattern of muscle weakness and wasting was more marked in the proximal upper limb-girdle and trunk muscles. Lower limb muscles were more mildly involved. Serum CK was normal or moderately increased. All patients had normal intelligence, normal computed tomography (CT) scans of the brain and normal somatosensory evoked potentials (SEP). Electromyography (EMG) and muscle biopsy showed morphological changes compatible with muscular dystrophy. Immunocytochemistry for dystrophin, laminin alpha 2 of merosin, and for alpha, beta, gamma sarcoglycans was normal. Linkage analysis excluded all the known loci for CMD, including laminin alpha 2 on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3, the integrin alpha 7 locus on chromosome 12q13 and the recently identified locus on 1p35-36. The family we present is clinically and genetically distinct from the already mapped forms of congenital muscular dystrophy. Genetic studies are in progress to localise the gene responsible for this condition.
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PMID:Merosin-positive congenital muscular dystrophy: a large inbred family. 1022 57

The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral. Gene sequencing demonstrated a heterozygous frame-shift mutation in the LAMA2 gene, consisting of an AG deletion at nucleotides 2049-2050 (LAMA2 c.2049_2050delAG). Lower limb muscle MRI presented obvious fatty infiltration of the muscles and muscle atrophy during the early stage of the disease. The gluteus maximus, erector spinae, vastus intermedius, vastus lateralis, adductor magnus, soleus and gastrocnemius muscles were involved, whereas the piriformis, obturator internus, pectineus, adductor longus, adductor brevis and sartorius muscles presented mild or no involvement. Fatty infiltration of the erector spinae was observed during the early stage of the disease. As an additional tool in the differential diagnosis of muscle disorders, muscle MRI can delay the need for muscle biopsy.
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PMID:Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. 2880 34