Tremor, X-linked
Breed: Cavalier King Charles Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Tremor, X-linked
OMIA
770
Gene Name
PLP1
Mutation
c.110A>C
Mutation 2
p.H37P
Mutation 3
g.77200833A>C
Mutation 4
c.219A>C
Test Type
Genetic Disease/Disorder
Details
X-linked Tremor, sometimes called shaking puppy syndrome, is a neurological disorder of the central nervous system, caused by a lack of the insulating myelin sheath covering the axons of the nerves. This can lead to premature death. Signs in males include severe tremors in the body, head, and limbs, worsening with activity and appearing to improve during rest, difficulties standing, moving, and eating - later progressing to seizures. Pups are smaller in size than their unaffected littermates. Age of onset form 2 weeks. The life expectancy of affected dogs is not normally beyond 3-4 months. Females carriers of the disorder may have mild tremors during puppyhood that resolve by 4-6 weeks of age.
Details 2
X-linked Tremor, sometimes called shaking puppy syndrome, is a neurological disorder of the central nervous system, caused by a lack of the insulating myelin sheath covering the axons of the nerves. This can lead to premature death. Signs in males include severe tremors in the body, head, and limbs, worsening with activity and appearing to improve during rest, difficulties standing, moving, and eating - later progressing to seizures. Pups are smaller in size than their unaffected littermates. Age of onset form 2 weeks. The life expectancy of affected dogs is not normally beyond 3-4 months. Females carriers of the disorder may have mild tremors during puppyhood that resolve by 4-6 weeks of age.
Published
Nadon, N.L., Duncan, I.D., Hudson, L.D. : A Point Mutation in the Proteolipid Protein Gene of the Shaking Pup Interrupts Oligodendrocyte Development Development 110:529-537, 1990. Pubmed reference: 1723945.
Published 2
Cuddon, P.A., Lipsitz, D., Duncan, I.D. : Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait Annals of Neurology 44:771-779, 1998. Pubmed reference: 9818933. DOI: 10.1002/ana.410440511.
Body/System/Process
Neurologic
OMIA Url
Inheritance
XR
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
DMD
Gene Name
DMD
Mutation
c.7294+5G>T
Mutation Comment
g.26956239G>A