Muscle Weakness
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by loss of function mutations in the Survival Motor Neuron 1 (SMN1) gene and reduced expression of the SMN protein, leading to spinal motor neuron death, muscle weakness and atrophy.
|
31811660 |
2019 |
Muscle Weakness
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We investigated the presence of non-neuromuscular phenotypes in patients affected by Spinal Muscular Atrophy (SMA), a disorder caused by a mutation in the Survival of Motor Neuron (SMN) gene, and whether these phenotypes may be clinically detectable prior to clinical signs of neuromuscular degeneration and therefore independent of muscle weakness.
|
30870495 |
2019 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This study described end-of-life care for children affected by spinal muscular atrophy type 1 (SMA1), which is characterised by progressive muscle weakness and develops in the first six months of life.
|
28941298 |
2018 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness.
|
27089520 |
2016 |
Muscle Weakness
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Depletion of the SMN protein causes muscle weakness and progressive loss of movement in SMA patients.
|
24845847 |
2014 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation p.Pro244Leu, not described so far, was identified in a patient with a mild form of SMA and more distal distribution of muscle weakness.
|
24844453 |
2014 |
Muscle Weakness
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
This genetic alteration results in reduced levels of the SMN protein, leading to degeneration of alpha motor neurons of the spinal cord and resulting in muscle weakness and progressive symmetrical proximal paralysis.
|
20711542 |
2011 |
Muscle Weakness
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Loss of SMN1 leads to reduced SMN protein levels, inducing degeneration of motor neurons (MN) and progressive muscle weakness and atrophy.
|
21118896 |
2011 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene.
|
20025960 |
2010 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.
|
19378506 |
2009 |
Muscle Weakness
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons.
|
19351384 |
2009 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation.
|
18263757 |
2008 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Homozygous mutation of SMN1 is associated with proximal spinal muscular atrophy (SMA), a severe motor neuron disease characterized by early childhood onset of progressive muscle weakness.
|
10615130 |
2000 |
Muscle Weakness
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The severity of muscle weakness correlates with the amount of full-length SMN protein produced.
|
10407786 |
1999 |
Muscle Weakness
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The SMN gene for SMA and the HEXA gene for GM2 gangliosidosis were investigated in a woman with progressive proximal muscle weakness, long believed to be SMA type III (Kugelberg-Welander type).
|
9153525 |
1997 |
Muscle Weakness
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We have studied the SMN gene in a clinically heterogeneous family, including one patient affected by infantile chronic SMA and three subjects with mild adult-onset muscle weakness.
|
8786072 |
1996 |
Muscle Weakness
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|