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Myotonia Congenita

Breed: Miniature Schnauzer/ Black

Generic Phene Data

General

Disease Name
Myotonia Congenita
OMIA
698
Gene Name
CLCN1
Mutation
c.2665insA
Mutation 2
c.803C>T
OMIM
160800
OMIM 2
255700
Disease Code
MC
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Muscular Hypertrophy
Details
Myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. Signs include: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, difficulty standing up/rising, increased respiratory sounds, generalised stiffness, and increased salivation. Age of onset 2-3 months of age. Signs can vary somewhat by breed/type.
Details 2
Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise. (From Finnigan et al, 2007)
Published
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.
Published 2
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.
Body/System/Process
Muscular
Inheritance
AR
Gene Name Text
chloride channel, voltage-sensitive 1

Breed Specific Data

Antagene

Link to GTP
GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

CAG GmbH Center for Animal Genetics

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

Embark

Link to GTP
GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

Genoscoper Laboratories Oy

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

Laboklin Gmbh & Co. KG

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

OptiGen

Link to GTP
GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

Paw Print Genetics

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test

VHL Genetics

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

Wisdom Health (formerly Mars Veterinary)

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR

Genomia s.r.o

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test

Genomia s.r.o

Link to GTP
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test

Anicom

Link to GTP
GTP
GTP Disease Name
Muscular Hypertrophy
Gene Name
CLCN1
Mutation
c.803C>T
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