The detail information of Cerebellar hypoplasia
Basic Information

Disease Ontology ID: DDTO:0000374

Disease Description: A condition where the cerebellum, a part of the brain, is poorly formed (too small or absent) and doesn't function properly or at all.

Inherit Mode: Autosomal recessive. This disorder is rare. There are sporadic reports of this disorder in breeds other than those listed below.

Disease Symptom: The cerebellum is the part of the brain that regulates the control and coordination of voluntary movement. The clinical signs of cerebellar dysfunction in affected puppies range from mild to severe, and may include poor balance, a wide-based stance (feet planted far apart), stiff or high-stepping gait, apparent lack of awareness of where the feet are (standing or walking with a foot knuckled over), and head or body tremors. Affected pups have normal mental alertness. In this condition, in contrast to cerebellar abiotrophy, signs of cerebellar dysfunction are evident at birth or by 2 weeks thereafter, and do not get worse as the pup ages. Other than the abnormalities in balance and coordination, the animal's general health is unaffected.

Disease Cause: -

Disease Diagnose: The clinical signs (relating to uncoordinated movement and lack of balance) are evident as soon as the pups are walking and are suggestive of a cerebellar disorder. Your veterinarian will do tests to rule out other conditions that can cause similar signs.

Treat Method: There is no treatment for this condition. Affected dogs will not get any worse (or better) and, especially where the signs are mild, may be able to lead a relatively normal life, particularly if owners can adjust their expectations to the dog's limitations.

Breeder Advice: Affected dogs, their parents and their siblings should not be used for breeding.

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Cerebellar hypoplasia - Autosomal Recessive -
Lissencephaly and cerebellar hypoplasia - - -
Cerebellar hypoplasia, VLDLR-associated Dandy-Walker-like malformation Autosomal Recessive -
Granule cell type cerebellar hypoplasia - - - -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB75 Chow Chow Serious-minded, dignified, bright, and aloof 43.2-50.8 cm 20.4-31.8 kg China
CB131 Irish Setter Outgoing, sweet-natured, active, and trainable 68.6 cm (male), 63.5 cm (female) 31.8 kg (male), 27.2 kg (female) Ireland
CB3 Airedale Terrier Clever, confident, proud; friendly but courageous 58.4 cm 22.7-31.8 kg United Kingdom (England)
CB61 Canaan Dog Alert, vigilant, territorial; docile with family, aloof with strangers 50.8-61 cm (male), 48.3-58.4 cm (female) 20.4-24.9 kg (male), 15.9-20.4 kg (female) Middle East Lebanon - Israel
CB76 Cirneco dell'Etna Affectionate, Friendly, Independent 18-19.5 inches (male), 16.5-18 inches (female) 22-26 pounds (male), 17-22 pounds (female) Italy
CB102 Field Spaniel Sweet, sensitive, fun-loving, and smart; a real people-pleaser 45.7 cm (male), 43.2 cm (female) 15.9-22.7 kg United Kingdom (England)
CB120 Great Pyrenees Calm, patient, smart; strong-willed yet affectionate 68.6-81.3 cm (male), 63.5-73.7 cm (female) 45.4 kg & up (male), 38.6 kg & up (female) France, Spain
Associated Disease Variants from OMIA
Gene Differential Expression
References
2016 Fraser,A.R.,leChevoir,M.A.,Long,S.N.: :
Lissencephaly in an adult Australian Kelpie. Aust Vet J 94:107-10, 2016.
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2015 Bernardino,F.,Rentmeister,K.,Schmidt,M.J.,Bruehschwein,A.,Matiasek,K.,Matiasek,L.A.,Lauda,A.,Schoon,H.A.,Fischer,A.: :
Inferior cerebellar hypoplasia resembling a dandy-walker-like malformation in purebred eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. PLoS One 10:e0117670, 2015.
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2015 Gerber,M.,Fischer,A.,Jagannathan,V.,Drögemüller,M.,Drögemüller,C.,Schmidt,M.J.,Bernardino,F.,Manz,E.,Matiasek,K.,Rentmeister,K.,Leeb,T.: :
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). PLoS One 10:e0108917, 2015.
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1979 Knecht,C.D.,Lamar,C.H.,Schaible,R.,Pflum,K.: :
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1976 Greene,C.E.,Vandevelde,M.,Braund,K.: :
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1976 Zaki,F.A.: :
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