/ 0

Store

Charcot Marie Tooth Disease (Type 4B2)

$50

(ONLINE PRICE)

ADD TO CART

Test Overview:

Charcot-Marie-Tooth Disease is an inherited neurological disease affecting dogs. Affected dogs typically present before 2 years of age with clinical signs related to megaesophagus and laryngeal paralysis. These include regurgitation, abnormal vocalization or quiet barking, and difficult, loud breathing. Less often dogs may have mild neurological abnormalities including delayed reflexes, tremors, hind end weakness, or exercise intolerance. This condition is slowly progressive and affected dogs may live normal lifespans with management of clinical signs.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

MTMR13

Variant Detected:

chr21:33682425 (canFam4): C/A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Farré Mariné, A, Granger, N, Bertolani, C, Mascort Boixeda, J, Shelton, GD, Luján Feliu-Pascual, A. Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases. J Vet Intern Med. 2020; 34:2005-2011. [PubMed: 32738000] Granger N, Luján Feliu-Pascual A, Spicer C, Ricketts S, Hitti R, Forman O, Hersheson J, Houlden H. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ. 2019 Nov 21;7: e7983 [PubMed: 31772832]

Associated Breed(s):

Miniature Schnauzer, Mixed Breed,

##parent-placeholder-19bd1503d9bad449304cc6b4e977b74bac6cc771##