Caprine beta-mannosidosis: phenotypic features

Vet Rec. 1986 Mar 22;118(12):325-7. doi: 10.1136/vr.118.12.325.

Abstract

The clinical features of caprine beta-mannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities observed in all 10 live affected animals included an inability to rise from a recumbent position, moderate to marked intention tremor, eye movements resembling pendular nystagmus, clinical deafness, bilateral Horner's syndrome, carpal contractures, pastern joint hyperextension, thickened skin and to a varying degree, a dome-shaped skull. Subjective evaluation suggested that most animals had a decreased muscle mass. Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cardiomegaly / veterinary
  • Female
  • Goats*
  • Male
  • Mannosidases / deficiency
  • Neurologic Manifestations
  • Phenotype
  • Pregnancy
  • alpha-Mannosidosis / diagnosis
  • alpha-Mannosidosis / pathology
  • alpha-Mannosidosis / veterinary*
  • beta-Mannosidase

Substances

  • Mannosidases
  • beta-Mannosidase