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Related Concept Videos

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...
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...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...

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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Published on: March 4, 2014

Peripheral muscle weakness in RASopathies.

David A Stevenson1, Shawn Allen, William E Tidyman

  • 1University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu

Muscle & Nerve
|August 22, 2012
PubMed
Summary
This summary is machine-generated.

Handgrip strength is significantly reduced in individuals with RASopathies, a group of genetic disorders affecting the Ras/MAPK pathway. This finding highlights potential muscle weakness as a common characteristic across these conditions.

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Area of Science:

  • Genetics
  • Neurology
  • Musculoskeletal Disorders

Background:

  • RASopathies are genetic disorders stemming from alterations in the Ras/MAPK pathway.
  • While neurocutaneous manifestations are characteristic, musculoskeletal abnormalities are also prevalent.
  • This study investigates handgrip strength within RASopathies.

Purpose of the Study:

  • To assess and quantify handgrip strength in individuals diagnosed with RASopathies.
  • To compare handgrip strength between patients with RASopathies and healthy controls.
  • To identify potential correlations between RASopathies and reduced muscle force.

Main Methods:

  • Evaluated individuals with Noonan syndrome, Costello syndrome, cardio-facio-cutaneous (CFC) syndrome, and neurofibromatosis type 1 (NF1).
  • Measured handgrip strength using the GRIP-D Takei Hand Grip Dynamometer and the Martin vigorimeter.
  • Employed a general linear model to compare strength, adjusting for age, gender, height, and weight.

Main Results:

  • Handgrip strength was found to be decreased in all tested RASopathies compared to healthy controls using the Takei dynamometer.
  • The Martin vigorimeter also indicated significantly reduced handgrip strength in RASopathies compared to sibling controls (P < 0.0001).

Conclusions:

  • Individuals with RASopathies exhibit diminished handgrip strength.
  • The underlying cause of this reduced muscle force is likely multifactorial and requires further investigation.