The detail information of Acral mutilation
Basic Information

Disease Ontology ID: DDTO:0000944

Disease Description: A progressive self-mutilation of the feet and legs. Also known as peripheral sensory neuropathy in pointing breeds because they are born without pain sensation.

Inherit Mode: This condition is believed to be autosomal recessive.

Disease Symptom: Affected pups usually begin to bite and lick their feet at 3 to 5 months of age, and have no temperature or pain sensation in the toes and sometimes up the legs. The hind legs are most severely affected. Your dog's toes and feet will become swollen and ulcerated. S/he will continue to walk without any apparent discomfort on the mutilated feet. Unfortunately attempts to prevent further mutilation are generally unsuccessful.

Disease Cause: -

Disease Diagnose: The diagnosis can usually be made based on distinctive clinical signs in a young dog of a typical breed. More than one pup in a litter may be affected. Electromyography will give a definitive diagnosis by revealing an absence of normal nerve potentials in your dog. Diagnosis can also be made at necropsy, based on the characteristic changes in the nervous system.

Treat Method: Unfortunately there is no treatment. Attempts to prevent mutilation through the use of bandages, collars or sedation are unsuccessful and, as the mutilation worsens, owners generally request euthanasia.

Breeder Advice: There is no test for carriers of this disorder. Parents and siblings of affected dogs 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
Acral mutilation syndrome hereditary sensory neuropathy Autosomal Recessive -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB111 German Short-Haired Pointer Friendly, smart, willing to please 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
CB185 English Pointer Even-tempered, alert, hardworking, and loyal; a peerless hunting partner 63.5-71.1 cm (male), 58.4-66 cm (female) 24.9-34 kg (male), 20.4-29.5 kg (female) United Kingdom (England)
CB112 German Spitz Devoted, Lively, Attentive 12-15 inches 24-26 pounds Germany
CB186 Polish Lowland Shepherd Dog Lively, clever, confident; very loyal, but an independent worker 45.7-50.8 cm (male), 43.2-48.3 cm (female) 13.6-22.7 kg Poland
Associated Disease Variants from OMIA
Gene Differential Expression
References
2019 Correard,S.,Plassais,J.,Lagoutte,L.,Botherel,N.,Thibaud,J.L.,Hédan,B.,Richard,L.,Lia,A.S.,Delague,V.,Mège,C.,Mathis,S.,Guaguère,E.,Paradis,M.,Vallat,J.M.,Quignon,P.,André,C.: :
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet :, 2019.
Pubmed reference: 30955094 . DOI: 10.1007/s00439-019-02003-x .
2017 Correard,S.,Plassais,J.,Lagoutte,L.,Paradis,M.,Guagère,E.,Quignon,P.,Derrien,T.,André,C.: :
A spontaneous dog model for a human sensory neuropathy: identification of a mutation in the upstream region of a neurotrophic factor. Bull Acad Vét Fr 169:190-194, 2017.
DOI: 10.4267/2042/61953 .
2016 Plassais,J.,Lagoutte,L.,Correard,S.,Paradis,M.,Guaguère,E.,Hédan,B.,Pommier,A.,Botherel,N.,Cadiergues,M.-C.,Pilorge,P.,Silversides,D.,Bizot,M.,Samuels,M.,Arnan,C.,Johnson,R.,Hitte,C.,Salbert,G.,Méreau,A.,Quignon,P.,Derrien,T.,André,C.: :
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 Genetics 12: e1006482, 2016.
Pubmed reference: 28033318 . DOI: 10.1371/journal.pgen.1006482 .
2010 Bardagí,M.,Montoliu,P.,Ferrer,L.,Fondevila,D.,Pumarola,M.: :
Acral mutilation syndrome in a miniature pinscher. J Comp Pathol 144:235-8, 2010.
Pubmed reference: 20961556 . DOI: 10.1016/j.jcpa.2010.08.014 .
2005 Paradis,M.,deJaham,C.,Page,N.,Sauve,F.,Helie,P.: :
Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol 16:87-93, 2005.
Pubmed reference: 15842538 . DOI: 10.1111/j.1365-3164.2005.00443.x .
1995 Scott, D.W., Miller, W.H., Griffin, C.E. :
Muller and Kirk's Small Animal Dermatology W.B. Saunders Co., Toronto. pp. 782-4
1984 Cummings,J.F.,deLahunta,A.,Simpson,S.T.,McDonald,J.M.: :
Reduced substance P-like immunoreactivity in hereditary sensory neuropathy of pointer dogs. Acta Neuropathol. 63:33-40, 1984.
Pubmed reference: 6203326 .
1983 Cummings,JF.,deLahunta,A.,Braund,KG.,Mitchell,WJ.: :
Hereditary sensory neuropathy. Nociceptive loss and acral mutilation in pointer dogs: canine hereditary sensory neuropathy. Am J Pathol 112:136-8, 1983.
Pubmed reference: 6574711 .
1981 Cummings,JF.,deLahunta,A.,Winn,SS.: :
Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol 53:119-27, 1981.
Pubmed reference: 6259871 .
1973 Pivník,L.: :
[Comparative problems of acrodystrophic neuropathies in man and dogs]. Schweiz Arch Neurol Neurochir Psychiatr. 112:365–371, 1973.
Pubmed reference: 4725277 .
1964 Sanda,A.,Pivník,L.: :
Die zehernekrose bei kurghaarigen. Vorstehlunden Kleintierproxis 9:76 only, 1964.