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Centronuclear myopathy
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.
Presenting signs
- Labrador Retriever puppy.
- Stiff gait, hyporeflexia, muscle atrophy, low head carriage.
- Clinical signs may vary markedly from day to day.
- With limited exercise the animal becomes reluctant to move and often nose-dives to the ground.
Acute presentation
- Megaesophagus may develop in some puppies.
Age predisposition
- Seen in young puppies 8-12 weeks.
- Signs may develop as late as 6 months.
Breed/Species predisposition
- Labrador Retriever Retriever: Labrador.
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.