The detail information of Spinal muscular atrophy/motor neuron disease
Basic Information

Disease Ontology ID: DDTO:0000027

Disease Description: Spinal muscular atrophy (motor neuron disease) causes degeneration and/or death of the motor neurons (motoneurons) in the spinal cord.

Inherit Mode: -

Disease Symptom: -

Disease Cause: -

Disease Diagnose: Diagnosis is based on a thorough neurologic examination, the absence of abnormalities on routine diagnostic tests, and the progressive nature of these conditions. Specific diagnostic tests include muscle biopsy and electronic testing of nerve conduction potentials (an electromyogram) of affected muscles.

Treat Method: There is no treatment. These conditions are slowly or rapidly progressive, with the exception of German shepherd focal spinal muscular atrophy where the effects may be relatively mild.

Breeder Advice: Affected dogs should not be bred. Breeding of parents and siblings (suspect carriers) should be avoided as well, so as not to perpetuate these serious and fortunately rare disorders. In family lines of Brittany spaniels where this disorder has occurred, dogs should not be bred until at least 3 years of age to ensure that any carriers are recognized.

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Motor neuron disease - - -
Motor neuron disease, lower - - - -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB54 Brittany Bright, upbeat, fun-loving at home; a tireless, enthusiastic worker afield 44.5-52.1 cm 13.6-18.1 kg France
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)
Associated Disease Variants from OMIA
Gene Differential Expression
References
2002 Rich,M.M.,Waldeck,R.F.,Cork,L.C.,Balice-Gordon,R.J.,Fyffe,R.E.W.,Wang,X.Y.,Cope,T.C.,Pinter,M.J.: :
Reduced endplate currents underlie motor unit dysfunction in canine motor neuron disease Journal of Neurophysiology 88:3293-3304, 2002.
Pubmed reference: 12466447 . DOI: 10.1152/jn.00270.2002 .
2002 Rich,M.M.,Wang,X.Y.,Cope,T.C.,Pinter,M.J.: :
Reduced neuromuscular quantal content with normal synaptic release time course and depression in canine motor neuron disease Journal of Neurophysiology 88:3305-3314, 2002.
Pubmed reference: 12466448 . DOI: 10.1152/jn.00271.2002 .
1999 Ackerman, L. :
The Genetic Condition: A Guide to Health Problems in Purebred Dogs AAHA Press. Lakewood, Colorado. pp 145-146
1999 Kent,M.,Knowles,K.,Glass,E.,deLahunta,A.,Braund,K.,Alroy,J.: :
Motor neuron abiotrophy in a Saluki Journal of the American Animal Hospital Association 35:436-439, 1999.
Pubmed reference: 10493421 .
1998 Mandara,M.T.,Di,Meo,A.: :
Lower motor neuron disease in the Griffon Briquet Vendeen dog Veterinary Pathology 35:412-414, 1998.
Pubmed reference: 9754548 .
1997 Pinter,M.J.,Waldeck,R.F.,Cope,T.C.,Cork,L.C.: :
Effects of 4-AMINOPYRIDINE on muscle and motor unit force in canine motor neuron disease Journal of Neuroscience 17:4500-4507, 1997.
Pubmed reference: 9151766 .
1995 Cummings, J.F., deLahunta, A. :
Canine neurodegenerative diseases involving motor neurons W.B.Saunders Co., Toronto. J.D. Bonaguara and R.W. Kirk (eds.) Kirk's Current Veterinary Therapy XII Small Animal Practice. pp. 1132-1136
1992 Cork, L.A. :
Canine ventral horn cell disease W.B. Saunders Co., Toronto. J.D. Bonaguara and R.W. Kirk (eds.) Kirk's Current Veterinary Therapy XI Small Animal Practice. pp. 1031-1034