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Acral Mutilation Syndrome

General

Disease Name
Acral Mutilation Syndrome
Disease Name 2
AMS
OMIA
1514
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
Disease Code
AMS
Test Type
Genetic Disease/Disorder
Details
A neurological disorder in which the nerves leading to the feet degenerate resulting in insensitivity to pain in legs and feet, sometimes accompanied by swelling, micro fractures, feet ulceration and discomfort. Affected dogs are prone to excessive licking, chewing and self-mutilation. The condition is sometimes detected soon after birth, typically symptoms become obvious by 4 -5 months.
Details 2
As summarised by Plassais et al. (2016): " Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact"
Published
Plassais J, Lagoutte L, Correard S, Paradis M, Guaguère E, Hédan B, et al. (2016) A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. PLoS Genet 2(12): e1006482. https://doi.org/10.1371/journal.pgen.1006482
Body/System/Process
Neurologic
Inheritance
AR
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