Degenerative myelopathy exon 2 (DM exon 2)

General description

Canine degenerative myelopathy (DM) is a fatal, slowly progressing neuro degenerative disease with a late onset (age 8 years or older). The initial clinical sign is characterised by spastic and general proprioceptive ataxia of the hind limbs. As the disease progresses, the frequently observed asymmetric weakness ascends to affect the thoracic limbs, resulting in paraplegia. Hyporeflexia of the myotatic and withdrawal reflexes occur.

Order details
Test number8158
AbbreviationDM
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexneuromuscular
Inheritanceautosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected.
Age of onsetab 8 years
CausalityHigh-risk factor
GeneSOD1
MutationG-A
LiteratureOMIA:000263-9615
Detailed description

Canine degenerative myelopathy (DM) is a fatal, slowly progressing neuro degenerative disease with a late onset (age 8 years or older). The initial clinical sign is characterised by spastic and general proprioceptive ataxia of the hind limbs. As the disease progresses, the frequently observed asymmetric weakness ascends to affect the thoracic limbs, resulting in paraplegia. Hyporeflexia of the myotactic and withdrawal reflexes occur. Initially, DM has been recognised as a spontaneously occurring, adult-onset spinal cord disorder in German Shepherds. Nowadays, DM has been diagnosed in several other dog breeds, including Pembroke Welsh Corgi, Boxer, Rhodesian Ridgeback and Chesapeake Bay Retriever. A mutation in exon 2 of SOD1 gene was identified as major risk factor for developing DM in many breeds so far. In the Bernese Mountain Dog breed, an additional mutation in exon 1 of SOD1 gene was characterized as being also a risk factor for DM. We offer genetic testing for both mutations in Bernese Mountain Dogs as combi or single tests.


Ihr Experte für Tiergenetik!

Contact

LABOGEN est un service proposé par
LABOKLIN GMBH CO.KG
LABOR FÜR KLINISCHE DIAGNOSTIK

… où l’expérience rencontre la qualité !

Copyright © 2024 LABOGEN by LABOKLIN. All Rights Reserved.