ISSN 2398-2969      

Centronuclear myopathy

icanis

Synonym(s): Labrador retriever myopathy, Type II muscle fiber deficiency, autosomal recessive muscular dystrophy


Introduction

  • Seen in Labrador Retriever puppies.
  • Signs: presenting signs vary from day to day.
  • Stiff gait, arched back and low head carriage are seen.
  • On exertion, puppies frequently nose-dive to the ground.
  • Diagnosis: genetic test available for mutation inPTPLAgene (http://www.labradorcnm.com), muscle biopsy can also confirm diagnosis.
  • Treatment: no specific medication, nursing care needed.
  • Prognosis: usually stabilize to an acceptable degree by one year of age.

Pathogenesis

Etiology

  • Autosomal recessive condition.

Timecourse

  • Signs usually stabilize by one year of age.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Pele M, Tiret L, Kessler J-L, Blot S & Panther J-J (2005) SINE exonic insertion in thePTPLAgene leads to multiple slicing defects and segregates with autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 14, 1417-1427 PubMed.
  • Braund K G (1997) Degenerative causes of myopathies in dogs and cats. Vet Med 92 (7), 608-617 VetMedResource.
  • Moore M P, Reed S M, Hegreberg G A & Kramer G M (1987) Electromyographic evaluation of adult Labrador retrievers with Type II muscle fibre deficiency. Am J Vet Res 48 (9), 1332-6 PubMed.
  • McKerrel R E & Braund K G (1986) Hereditary myopathy in Labrador retrievers a morphologic study. Vet Pathol 23 (4), 411-7 PubMed.

Other sources of information

  • Shelton G D, Engvall E (2002)Muscular dystrophies and other inherited myopathies.Vet Clin North Amer Small Anim Pract32, 103-124PubMed.
  • Braund K Get al(1995)Limb-girdle muscular dystrophy. Animal models of human disease. Hereditary myopathy in Labrador Retrievers.Comp Path Bull26(20th fascicle): Suppl update (model number 366).
  • McKerrell R E (1989)Labrador retriever myopathy- clinical and pathological investigations.PhD Thesis, Uni of Cambridge.

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