ISSN 2398-2950      

Muscular dystrophy

ffelis

Synonym(s): MD


Introduction

  • Cause: heterogenous group of inherited, degenerative, mostly non-inflammatory muscle diseases.
  • Signs: progressive muscle stiffness, contracture, lingual hypertrophy, muscle atrophy or hypertrophy, cardiomyopathy.
  • Diagnosis: elevated serum creatinine kinase (CK), muscle biopsy.
  • Treatment: no specific treatment.
  • Prognosis: poor prognosis, progressively fatal disease.
    Print off the owner factsheet on Muscular dystrophies  Muscular dystrophies  to give to your client.

Pathogenesis

Etiology

  • Heterogenous group of more than 30 hereditary degenerative myopathies Myopathies.
  • To date 4 forms of muscular dystrophy identified in cats: feline X-linked dystrophin deficiency, merosin (laminin alpha2) deficiency, sarcoglycan deficiency and dystroglycan deficiency.
  • Dystrophin deficiency is associated with genetic mutations of the dystrophin gene.
  • Dystrophin gene is located on X-chromosome => dystrophin muscular dystrophy is an X-linked recessive trait transmitted by a female carrier.

Pathophysiology

  • Dystrophin links the myofiber cytoskeleton to the extracellular matrix and is essential in stabilization of the muscle fiber membranes during contraction.
  • Mutations of genes coding for dystrophin or its associated proteins => disruption of the dystrophin-glycoprotein complex => membrane instability => leakage of intracellular contents into the extracellular fluid space and skeletal and cardiac muscle fiber damage.
  • Laminin alpha2 is the major component of the basal lamina that surrounds each muscle fiber and one of the extracellular ligands for the dystrophin-associated glycoprotein complex => links dystrophin to the extracellular matrix and contributes to the stability of the muscle basement membrane.
  • Dystroglycan is a central part of the dystrophin-glycoprotein (DAG) complex - it is an extracellular membrane associated protein which binds to a variety of extracellular proteins including laminin alpha2.

Timecourse

  • Signs usually develop in first 3-6 months of life and are most often rapidly progressive.

Diagnosis

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Treatment

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Prevention

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Outcomes

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Gambino A N, Mouser P J, Shelton G D et al (2014) Emergent presentation of a cat with dystrophin-deficient muscular dystrophy. J Am Anim Hosp Assoc 50 (2), 130-135 PubMed.
  • Blunden A S & Gower S (2011) Hypertrophic feline muscular dystrophy: diagnostic overview and a novel immunohistochemical diagnostic method using formalin-fixed tissue. Vet Rec 168 (19), 510 PubMed.
  • Salvadori C, Vattemi G, Lombardo R et al (2009) Muscular dystrophy with reduced beta-sarcoglycan in a cat. J Comp Pathol 140 (4), 278-282 PubMed.
  • Martin P T, Shelton G D, Dickinson P J et al (2008) Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular Disor 18 (12), 942-952 PubMed.
  • Schatzberg S J & Shelton G D (2004) Newly identified neuromuscular disorders. Vet Clin North Am Small Anim Pract 34 (6), 1497-1524 PubMed.
  • Poncelet L, Résibois A, Engvall E et al (2003) Laminin alpha2 deficiency-associated muscular dystrophy in a Maine coon cat. J Small Anim Pract 44 (12), 550-552 PubMed.
  • Shelton G D & Engvall E (2002) Muscular dystrophies and other inherited myopathies. Vet Clin North Am Small Anim Pract 32 (1), 103-124 PubMed.

Can’t find what you’re looking for?

We have an ever growing content library on Vetlexicon so if you ever find we haven't covered something that you need please fill in the form below and let us know!

 
 
 
 

To show you are not a Bot please can you enter the number showing adjacent to this field

 Security code