Hypomyelinating Polyneuropathy
Hypomyelination syndrome is characterized by failure to generate a normal myelin sheath-axon relationship within the central nervous system.
Age of Onset: 7-18 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical Signs:
Behavioral/Mental Awareness
Obtunded
Posture and Appearance
Crouched appearance
Broad based stance in pelvic limbs
Movement
Ataxia
"Bunny hop" gait
Proprioception
Proprioceptive deficits
Spinal Reflexes
Decreased spinal reflexes
Special Functions (e.g. respiration; urination)
Exercise intolerance
Inspiratory stridor
Megaesophagus
Muscle Atrophy
Generalized muscle atrophy
Behavioral/Mental Awareness
Obtunded
Posture and Appearance
Crouched appearance
Broad based stance in pelvic limbs
Movement
Ataxia
"Bunny hop" gait
Proprioception
Proprioceptive deficits
Spinal Reflexes
Decreased spinal reflexes
Special Functions (e.g. respiration; urination)
Exercise intolerance
Inspiratory stridor
Megaesophagus
Muscle Atrophy
Generalized muscle atrophy
Peripheral nerves
Three separate genes have been implicated in disease in Golden Retrievers:
Autosomal recessive MTMR2 variant inheritance
Autosomal recessive SH3TC2 variant inheritance
Spontaneous mutation of heterozygous MPZ variant, inherited in an autosomal dominant fashion
For breed specific genetic testing, follow the links below:
https://vgl.ucdavis.edu/test/congenital_hypomyelinating_polyneuropathy
https://www.genomia.cz/en/test/hypomyel-polyneuropathy-g/
Autosomal recessive MTMR2 variant inheritance
Autosomal recessive SH3TC2 variant inheritance
Spontaneous mutation of heterozygous MPZ variant, inherited in an autosomal dominant fashion
For breed specific genetic testing, follow the links below:
https://vgl.ucdavis.edu/test/congenital_hypomyelinating_polyneuropathy
https://www.genomia.cz/en/test/hypomyel-polyneuropathy-g/
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