Pug

PK-B - Pyruvate Kinase Deficiency

Hemolytic anaemia

Description: Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to an anaemia more or less severe according to individuals

Symptoms : Pale mucous membranes, lethargy, exercise intolerance abnormal bone density, liver failure, shortened life expectancy

Age of onset : Between 4 months and 2 years old

Frequency : Not available

Gene involved : PKLR

Tested mutation : c.848T>C

Transmission : Autosomal Recessive

Patent : -

Notes :

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Pug

DM - Degenerative Myelopathy

Progressive paralysis

Description: Degenerative disease of the spinal cord causing progressive paralysis

Symptoms : Loss of coordination (ataxia) in the hind limbs until paraplegia, loss of urinary and fecal continence. If signs progress for a longer period of time, eventually weakness will develop in the front limbs.

Age of onset : Between 8 and 14 years old

Frequency : _

Gene involved : SOD1

Tested mutation : c.118G>A

Transmission : Autosomal Recessive

Patent : _

Notes :

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