Disease Ontology ID: DDTO:0000845
Disease Description: This disease affects skeletal (voluntary) muscle, such as the muscles of the limbs. Muscles are unable to relax normally following contraction (or electrical stimulation). This results in a stiff, awkward gait, difficulty in rising, and stiff joints.
Inherit Mode: In chow chows, myotonia is believed to be inherited as an autosomal recessive trait.
Disease Symptom: While there is no cure for this disease, affecteddogs will oftenremain stable, without worsening of clinical signs, with drug therapy.
Disease Cause: -
Disease Diagnose: Your veterinarian will suspect this disease if yourdog shows thecharacteristic signs of delayed muscle relaxation. Your dog may havedifficulty rising,and a stiff gait (although gait will become more normal as the dog 'warms up').Muscles may be hypertophied (large and well-developed) and it may bedifficult to flex thelimbs. Diagnosis is confirmed by analyzing muscle response toelectrical stimulation(electromyography) and by evaluation of muscle biopsies.
Treat Method: There is no cure for this disease, although drugtherapy (eg.procainamide) helps many dogs.
Breeder Advice: Affected dogs should not be bred. Parents ofaffected chow chows arecarriers, and siblings are suspect carriers, and so should not be usedfor breeding.
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Myotonia | - | Autosomal Recessive | - |
| 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 |
| 2018 |
Quitt,P.R.,Hytönen,M.K.,Matiasek,K.,Rosati,M.,Fischer,A.,Lohi,H.: :
Myotonia congenita in a Labrador Retriever with truncated CLCN1. Neuromuscul Disord 28:597-605, 2018. Pubmed reference: 29934119 . DOI: 10.1016/j.nmd.2018.05.002 . |
| 2013 |
Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013. Pubmed reference: 24069350 . DOI: 10.1371/journal.pone.0074811 . |
| 2009 |
Lobetti,RG.: :
Myotonia congenita in a Jack Russell terrier. J S Afr Vet Assoc 80:106-7, 2009. Pubmed reference: 19831273 . |
| 2007 |
Finnigan,DF.,Hanna,WJ.,Poma,R.,Bendall,AJ.: :
A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med 21:458-63, 2007. Pubmed reference: 17552451 . |
| 2003 |
Bhalerao,D.R.,Rajpurochit,Y.,Vite,C.H.,Giger,U.: :
Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor (vol 63, pg 1443, 2002) American Journal of Veterinary Research 64:25, 2003. |
| 2002 |
Bhalerao,D.R.,Rajpurohit,Y.,Vite,C.H.,Giger,U.: :
Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor American Journal of Veterinary Research 63:1443-1447, 2002. Pubmed reference: 12371774 . |
| 2000 |
Gracis,M.,Keith,D.,Vite,C.H.: :
Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results. J Vet Dent 17:119-27, 2000. Pubmed reference: 11968937 . |
| 1999 |
Ackerman L. :
The Genetic Connection: A Guide to Health Problemsin Purebred Dogs AAHA Press,Lakewood, Colorado. 122 |
| 1999 |
Vite,C.H.,Melniczek,J.,Patterson,D.,Giger,U.: :
Congenital myotonic myopathy in the miniature schnauzer: An autosomal recessive trait Journal of Heredity 90:578-580, 1999. Pubmed reference: 10544501 . |
| 1999 |
Rhodes,T.H.,Vite,C.H.,Giger,U.,Patterson,D.F.,Fahlke,C.,George,A.L.: :
A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed reference: 10452529 . |
| 1998 |
Smith,B.F.,Braund,K.G.,Steiss,J.E.,Simpson,S.T.,Cox,N.R.,Sorjonen,D.C.: :
Possible adult onset myotonic dystrophy in a boxer Journal of Veterinary Internal Medicine 12:120, 1998. Pubmed reference: 9560770 . |
| 1998 |
Swinney,G.B.,Foster,S.F.,Church,D.B.,Malik,R.: :
Myotonia associated with hyperadrenocorticism in two dogs Australian Veterinary Journal 76:722-724, 1998. Pubmed reference: 9862060 . |
| 1998 |
Vite,C.H.,Cozzi,F.,Rich,M.,Klide,A.K.,Volk,S.W.,Lombardo,R.: :
Myotonic myopathy in a miniature Schnauzer: case report and data suggesting abnormal chloride conductance across the muscle membrane. J Vet Intern Med 12:394-7, 1998. Pubmed reference: 9773418 . |
| 1995 |
Kornegay JN. :
Disorders of the skeletalmuscles WB Saunders Co.,Toronto. EJ Ettingerand EC Feldman (eds) Textbook of Veterinary Internal Medicine,p.727-736 |
| 1995 |
Hill,S.L.,Shelton,G.D.,Lenehan,T.M.: :
Myotonia in a cocker spaniel Journal of the American Animal Hospital Association 31:506-509, 1995. Pubmed reference: 8581546 . |
| 1991 |
Poncelet,L.,Fontaine,J.,Balligand,M.: :
Myotonia in two aged poodles. Vet Rec 128:599, 1991. Pubmed reference: 1897093 . |
| 1989 |
Kortz,G.: :
Canine myotonia. Semin Vet Med Surg (Small Anim) 4:141-5, 1989. Pubmed reference: 2682887 . |
| 1987 |
McKerrell,R.E.: :
Myotonia in man and animals: confusing comparisons. Equine Vet J 19:266-7, 1987. Pubmed reference: 3622451 . |
| 1974 |
Wentink,G.H.,Hartman,W.,Koeman,J.P.: :
Three cases of myotonia in a family of Chows Tijdschrift voor Diergeneeskunde 99:729-731, 1974. Pubmed reference: 4536400 . |