West Highland White Terrier

CMO - Craniomandibular Osteopathy

Bone proliferation

Description: Non-cancerous proliferating disease altering form and function of the bones of the skull and jaw bone

Symptoms : During the bony proliferation phase, difficulties in chewing, swelling and thickening of the jaw, pain, recurrent fever

Age of onset : Between 4 and 7 months old

Frequency : Not available

Gene involved : SLC37A2

Tested mutation : c.1332C>T

Transmission : Autosomal Dominant with incomplete penetrance

Patent : -

Notes : Because of incomplete penetrance and varying expressivity, many of the dogs carrying the CMO mutation will live without showing clinical signs

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West Highland White Terrier

VWD1 - von Willebrand's Disease Type I

Mild bleeding disorder

Description: Insufficient synthesis of von Willebrand factor, a protein involved in blood coagulation

Symptoms : Important bleedings or haemorrhagic episodes, potentially lethal only after a surgical act or trauma. Spontaneous bleedings of mucous membranes observed in very rare cases

Age of onset : From birth

Frequency : Not available

Gene involved : VWF

Tested mutation : c.7142C>T

Transmission : Autosomal Recessive

Patent : _

Notes : Attenuate symptoms can exceptionally be observed in heterozygous dogs

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West Highland White Terrier

GLD - Globoid Cell Leukodystrophy

Krabbe disease

Description: Lysosomal strorage disease causing severe neuronal degeneration

Symptoms : Weakness of the limbs, tremors, uncoordinated movement, blindness, behavioural disorder

Age of onset : Between 1 and 5 months old

Frequency : Not available

Gene involved : GALC

Tested mutation : c.473A>C

Transmission : Autosomal Recessive

Patent : -

Notes :

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