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Related Concept Videos

Cross-bridge Cycle01:26

Cross-bridge Cycle

As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
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Myasthenia Gravis: Overview and Treatment

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Related Experiment Video

Updated: May 28, 2026

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis
06:12

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

Published on: January 11, 2014

Spinal muscular atrophy.

Adele D'Amico1, Eugenio Mercuri, Francesco D Tiziano

  • 1Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, P.za S. Onofrio, 4, Rome (00165), Italy.

Orphanet Journal of Rare Diseases
|November 4, 2011
PubMed
Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease causing muscle weakness due to SMN1 gene mutations. Genetic testing is crucial for diagnosis, carrier screening, and reproductive planning in affected families.

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Published on: October 3, 2011

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder affecting alpha motor neurons.
  • It leads to progressive muscle weakness and paralysis, with an incidence of 1 in 6,000 to 10,000 live births.
  • Phenotypes range from severe (SMA I) to mild (SMA IV), impacting motor function and survival.

Purpose of the Study:

  • To outline the diagnostic approach for spinal muscular atrophy (SMA).
  • To discuss carrier testing and prenatal diagnosis for reproductive planning.
  • To emphasize the importance of multidisciplinary care and prognosis based on SMA type.

Main Methods:

  • Genetic testing, specifically detecting homozygous deletion of the survival motor neuron 1 (SMN1) gene (SMN1 exon 7 absence).
  • Diagnostic test sensitivity is up to 95% with nearly 100% specificity.
  • Differential diagnosis involves excluding other neuromuscular disorders presenting with hypotonia or limb girdle weakness.

Main Results:

  • Homozygous deletion of the SMN1 gene is the primary cause of SMA, detectable with high accuracy.
  • Carrier testing and prenatal diagnosis are vital for families with a history of SMA, with a 25% recurrence risk.
  • Prognosis varies significantly with SMA type, from high mortality in SMA I to no mortality in later-onset forms.

Conclusions:

  • Accurate genetic diagnosis of SMA is achievable through SMN1 gene testing.
  • Carrier screening and prenatal diagnosis are essential for informed reproductive decisions.
  • Multidisciplinary management by neuromuscular disorder experts is critical for optimizing patient care and outcomes.