Felis ISSN 2398-2950

Spinal muscular atrophy (Maine Coon)

Synonym(s): Motor neuron disease

Contributor(s): Laurent Garosi, Simon Platt

Introduction

  • Cause: genetic disease.
  • Signs: muscle weakness and atrophy, progressive unsteady gait.
  • Diagnosis: DNA testing, definitive diagnosis made post-mortem.
  • Treatment: none.
  • Prognosis: signs are progressive although affected cats do seem to stabilize and most live very comfortably as indoor cats for many years.

Pathogenesis

Etiology

  • Genetic disease Inherited diseases: genetic tests.
  • Large deletion of chromosome A1 that removed 2 genes
  • Mutation is inherited as a simple autosomal recessive trait.

Pathophysiology

  • Loss of ventral horn motor neuron in the spinal cord that activate skeletal muscles of the trunk and limbs.
  • Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first become apparent at 3-4 months of age.

Timecourse

  • By 5-6 months of age affected kittensare too weak in the pelvic limbs to readily jump up on furniture and often have a clumsy landing when jumping down.

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.
  • Fyfe J C, Menotti-Raymond M, David V A et al (2006) An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Research 16 (9), 1084-1090 PubMed.
  • He Q, Lowrie C, Shelton G D et al (2005) Inherited motor neuron disease in domestic cats: A model of spinal muscular atrophy. Pediatric Research 57 (3), 324-330 PubMed.
  • Iannaccone S T (2005) Feline spinal muscular atrophy. Pediatr Res 57 (3), 322-323 PubMed.
  • Olby N (2004) Motor neuron disease: inherited and acquired. Vet Clin North Am Small Anim Pract 34 (6), 1403-1418 PubMed.


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