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Results for “Muscular Atrophy, Spinal”

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At least 1,045 records · Page 58Linked to original sources
PubMed1979

Bedside evaluation of large motor units in childhood spinal muscular atrophy.

One hundred patients with motor unit disease were examined to determine the diagnostc reliability of several clinical signs of large motor units. These signs were high-intensity, low-pitched rumbling on skeletal muscle auscultation, voluntary contraction fasciculations, contraction fasciculation trembling, and palpable contraction fasciculations. Among 22 cases of spinal muscular atrophy, contration fasciculation trembling was noted in 86 percent, abnormal muscle auscultation in 68 percent, palpable contraction fasciculations in 64 percent, and voluntary contraction fasciculations in 50 percent.

Adolescent↗
PubMedDate not supplied

[Progressive spinal muscular atrophy of proximal location in adults].

The authors report two cases of familial progressive muscular atrophy of proximal localization, with late onset of signs which was associated with involvement of the motor nucleus of trigeminal nerve and hypoglossus nerve nucleus as well as with presence of gynaecomastia. Cases of coexistence of gynaecomastia with spinal muscular atrophy are rare in the literature and the present report may serve for explanation whether the association of these signs is accidental or whether it is a separate nosological entity.

Age Factors↗
PubMed1981

Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy.

Ventilatory failure occurred in a patient suffering from proximal neurogenic muscular atrophy resembling the adult form of Kugelberg-Welander syndrome. Diaphragmatic paralysis was diagnosed when patient was found to be unable to generate a transdiaphragmatic pressure difference on deep inspiration. Post-mortem examination revealed nearly complete replacement of the diaphragm by fat and fibrous tissue. Although uncommonly reported in the medical literature, ventilatory failure secondary to diaphragm dysfunction should be added to the list of complications encountered in the clinical setting of chronic proximal spinal muscular atrophy.

Adult↗
PubMed1981

Distal spinal muscular atrophy and ophthalmoparesis. A case with selective type 2 fiber hypotrophy.

A patient had distal muscular atrophy involving the upper and lower extremities, ptosis of the lid, and ophthalmoparesis and cataracts. Muscle histochemistry and electromyographic examination showed lower motor neuron involvement. This case is similar to others described in the literature and designated as distal spinal muscular atrophy. The unique association with ophthalmologic signs can be considered either as a variant form of the disease or as a separate entity. Muscle biopsy showed selective type 2 muscle fiber hypotrophy in the biceps. A second biopsy specimen of the quadriceps showed type grouping with persistence of small type 2 fibers, suggesting that reinnervation capability is independent of neuronal trophic influence.

Child, Preschool↗
PubMedDate not supplied

Embryonic and foetal myosins in human skeletal muscle. The presence of foetal myosins in duchenne muscular dystrophy and infantile spinal muscular atrophy.

Recently described techniques for separating myosin isoenzymes have been adapted for analysis of myosins from diseased and developing human skeletal muscle. The method is highly suitable for analysis of human myosins because only 2 - 3 mg of muscle are required for routine analyses. Human embryonic/foetal myosins are electrophoretically distinct from mature skeletal myosins, and are not normally detected beyond the first month of post-natal life, except in premature infants. They have a high alkaline calcium-activated ATPase activity. This would account for the histochemical classification of foetal fibres as "Type II", although physiological differences between adult fast-twitch muscle and foetal muscle are well recognized. Foetal myosins are also synthesized in human skeletal muscle under certain pathological circumstances. Their presence in Duchenne dystrophy probably reflects the associated marked muscle regeneration, with immaturity of some muscle cells. The large amounts of foetal myosin present in many cases of infantile spinal muscular atrophy is evidence that innervation is necessary for the normal cessation of foetal myosin synthesis.

Animals↗
PubMed1984

[Adult form of acid maltase deficiency presenting as progressive spinal muscular atrophy].

As far as could be elucidated, a sporadic manifestation of a slowly progressing muscular weakness and atrophy had commenced in a female patient symmetrically in the pelvic girdle and thigh region at the age of about 22 years. Only at the age of 55 years a precise neurological examination was done. On the basis of clinical and electromyographic data spinal muscular atrophy of the Kugelberg-Welander type was diagnosed. Muscular biopsy demonstrated severe far-progressed neurogenic muscular atrophy. In addition, increased storage of PAS-positive material was noticed. This was particularly true in the sparsely preserved, non-denervated muscular areas changed in the manner of an accompanying myopathy. Complementing electron microscopy and pathobiochemistry in the muscular biopsy showed an adult form of lack of acid maltase (Pompe's disease) aetiologically. This enzyme defect could also be demonstrated in the white cells of this patient.

Adult↗
PubMed1979

Differential diagnosis of limb-girdle muscular dystrophy and spinal muscular atrophy.

Neuromuscular biopsies from 18 patients with proximal muscle weakness were classified electromyographically as myopathy (11 cases), denervation (3 cases), or inconclusive (4 cases). Myopathic changes of muscle fibers occurred in all biopsies. Small angular dark fibers were observed in nine biopsies, and small-group atrophy in four biopsies from the three above-mentioned groups. Two biopsies classified as denervation showed large-group atrophy. Terminal innervation ratio (TIR) was increased only in the three cases classified as denervation and in one inconclusive case. TIR, which is more closely correlated with electromyographic (EMG) results than are muscle fiber changes, may help differentiate spinal muscular atrophy from limb-girdle muscular dystrophy.

Adolescent↗
PubMed1977

Distal chronic spinal muscular atrophy involving the hands.

Six patients with a 10 to 30 year history of slowly progressive wasting and weakness of the small muscles of the hands have been studied. In all patients the abnormal neurological signs were largely confined to the hands and there was no clinical nor radiological evidence of peripheral nerve, nerve root or central nervous system disease. Detailed electrophysiological studies established that the muscle wasting was due to chronic partial denervation. Motor and sensory conduction studies were normal. These patients represent a benign form of chronic spinal muscular atrophy largely localised to the small muscles of the hand.

Adult↗
PubMed1986

Expression of muscle cell surface antigen 5.1H11 in infantile or juvenile spinal muscular atrophy.

Monoclonal antibody 5.1H11 reacts with a cell surface antigen of human myoblasts and myotubes in cell culture. We found that levels of this antigen decrease to background levels during development of fetal muscle, and this down-regulation occurs after innervation. Adult myofibers are uniformly negative for 5.1H11 reactivity. Denervated muscle fibers from cases of Werdnig-Hoffmann disease and Kugelberg-Welander syndrome expressed 5.1H11 reactivity, while innervated fibers on the same sections were negative. Levels of 5.1H11 antigen therefore appear to be regulated by nerve in these spinal muscular atrophies.

Antigens, Surface↗
PubMed2003

Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron.

The biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs) requires the cytoplasmic assembly of the Sm-core complex, followed by the hypermethylation of the small nuclear RNA (snRNA) 5' cap. Both the Sm-core complex and the snRNA trimethylguanosine cap are required for the efficient nuclear import of snRNPs. Here, we show that trimethylguanosine synthase 1 (TGS1), the human homologue of the yeast snRNA cap hypermethylase, interacts directly with the survival of motor neuron (SMN) protein. Both proteins are similarly distributed, localizing in the cytoplasm and in nuclear Cajal bodies. The interaction between TGS1 and SMN is disrupted by a mutation in SMN that mimics the predominant isoform of the protein that is expressed in patients with the neurodegenerative disease, spinal muscular atrophy. These data indicate that, in addition to its function in cytoplasmic Sm-core assembly, the SMN protein also functions in the recruitment of the snRNA cap hypermethylase.

Autoantigens↗