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Related Concept Videos

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

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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...
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin01:26

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin

Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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.

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Related Experiment Video

Updated: Jul 17, 2026

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
14:10

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

Cone rod dystrophies.

Christian P Hamel1

  • 1Inserm U. 583, Physiopathologie et thérapie des déficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France. hamel@montp.inserm.fr

Orphanet Journal of Rare Diseases
|February 3, 2007
PubMed
Summary

Cone rod dystrophies (CRDs) are inherited retinal diseases causing primary cone damage, leading to rapid vision loss. Diagnosis involves clinical findings and electroretinography, with no current cure available.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Cone rod dystrophies (CRDs) are inherited retinal diseases affecting photoreceptors, with a prevalence of 1 in 40,000.
  • CRDs involve primary cone dysfunction, distinguishing them from typical retinitis pigmentosa (RP) which primarily affects rods.
  • Symptoms include decreased visual acuity, color vision defects, and central visual field loss, progressing to peripheral vision loss and night blindness.

Purpose of the Study:

  • To summarize the characteristics, genetic basis, diagnosis, and current management of cone rod dystrophies.
  • To differentiate CRDs from other retinal dystrophies like RP.
  • To highlight the challenges in treating CRDs and the need for supportive care.

Main Methods:

  • Review of clinical presentation and fundus examination findings in CRD patients.

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Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

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  • Analysis of genetic heterogeneity, including major causative genes like ABCA4, CRX, GUCY2D, and RPGR.
  • Description of diagnostic tools such as electroretinography and molecular testing.

    • Main Results:

    • CRDs exhibit a distinct pattern of primary cone loss, leading to more severe and rapid vision impairment compared to RP.
    • Genetic causes are diverse, with ABCA4, CRX, GUCY2D, and RPGR being significant contributors to non-syndromic CRDs.
    • While some CRDs are syndromic (e.g., Bardet-Biedl syndrome, SCA7), most are non-syndromic and genetically heterogeneous.

    Conclusions:

    • CRDs represent a severe form of inherited retinal dystrophy with a poor visual prognosis and no current curative treatments.
    • Management focuses on slowing disease progression, addressing complications, and providing psychosocial support.
    • Genetic counseling is crucial for affected individuals and families due to the heterogeneous genetic basis of CRDs.