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Juvenile Spinal Muscular Atrophy

Known as: Juvenile Muscular Atrophy, Spinal Muscular Atrophy, Type 3, Spinal Muscular Atrophy, Juvenile 
A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the… Expand
National Institutes of Health

Related topics

Related topics

12 relations

Broader (5)

Anterior Horn Cell DiseaseMyelopathic Muscular AtrophyProgressive Muscular AtrophySpinal Muscular Atrophies of Childhood
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Autosomal recessive inheritanceConnective and Soft TissueHMN (Hereditary Motor Neuropathy) Proximal Type IMuscle Cramp
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Is Muscular Fitness Associated with Future Health Benefits in Children and Adolescents? A Systematic Review and Meta-Analysis of Longitudinal Studies
BackgroundNo previous systematic review has quantitatively examined the association between muscular fitness during childhood and… Expand
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Review
2019
Review
2019
Choriocapillaris flow impairment surrounding geographic atrophy correlates with disease progression
Purpose To evaluate the correlation between the choriocapillaris (CC) flow alterations around geographic atrophy (GA) and the GA… Expand
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Review
2018
Review
2018
Broad-spectrum physical fitness benefits of recreational football: a systematic review and meta-analysis
Background A previous meta-analysis showed that maximal oxygen uptake increased by 3.51 mL/kg/min (95% CI 3.07 to 4.15) during a… Expand
Review
2018
Review
2018
The role of survival motor neuron protein (SMN) in protein homeostasis
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of the childhood inherited… Expand
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Review
2018
Review
2018
The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.
Geographic atrophy (GA) is an advanced form of age-related macular degeneration (AMD) that leads to progressive and irreversible… Expand
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Review
2018
Review
2018
Pigmentary Maculopathy Associated with Chronic Exposure to Pentosan Polysulfate Sodium.
PURPOSE To describe the clinical features of a unique pigmentary maculopathy noted in the setting of chronic exposure to pentosan… Expand
Review
2018
Review
2018
Treating pediatric neuromuscular disorders: The future is now
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in… Expand
Review
2017
Review
2017
Nusinersen for the treatment of spinal muscular atrophy
  • C. Chiriboga
  • Expert review of neurotherapeutics
  • 2017
    • Corpus ID: 34129545
ABSTRACT Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disorder characterized… Expand
Review
2017
Review
2017
Brains and Brawn: Toxoplasma Infections of the Central Nervous System and Skeletal Muscle.
Toxoplasma gondii is a widespread parasitic pathogen that infects over a third of the world's population. Following an acute… Expand
Highly Cited
1991
Highly Cited
1991
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be… Expand
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