PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Muscular Atrophy, Spinal”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,243 records · Page 69Linked to original sources
PubMedDate not supplied

Assessment of quadriceps femoris muscle atrophy and hypertrophy in neuromuscular disease in children.

Midthigh muscle and subcutaneous tissue thickness were measured using a real-time linear array ultrasound scanner in 50 patients attending our Muscle Clinic; 28 had muscular dystrophy and 21 spinal muscular atrophy. In muscular dystrophy the muscle thickness was found to be normal or increased, whereas in spinal muscular atrophy it was reduced, with an associated increase in subcutaneous tissue thickness that did not relate to obesity. Measurement of muscle and subcutaneous tissue thickness provides a more accurate way of assessing muscle atrophy and hypertrophy than clinical assessment, and is a useful guide in the discrimination between muscular dystrophy and spinal muscular atrophy.

Atrophy↗
PubMed1995

Identification and characterization of a spinal muscular atrophy-determining gene.

Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported. We describe here the inverted duplication of a 500 kb element in normal chromosomes and narrow the critical region to 140 kb within the telomeric region. This interval contains a 20 kb gene encoding a novel protein of 294 amino acids. An highly homologous gene is present in the centromeric element of 95% of controls. The telomeric gene is either lacking or interrupted in 226 of 229 patients, and patients retaining this gene (3 of 229) carry either a point mutation (Y272C) or short deletions in the consensus splice sites of introns 6 and 7. These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene.

Amino Acid Sequence↗