Centronukleäre Myopathie (CNM)
Centronuclear myopathy (CNM)
General description
Affected dogs of the breeds Labrador Retriever and Gret Dane lack tendon reflexes and gain less weight than puppies of the same age. Obvious symptoms first occur at weeks 12 to 20 including general amyosthenia, aberrant bearing, awkward gait and trouble with ingestion. Affected animals exhibit low stamina and collapse when exposed to coldness.
Typical symptoms of Excercise induced metabolic myopathy (EIMM) in the breed German Hunting Terrier are signs of exercise induced weakness, muscle pain, rhabdomyolysis and brownish discoloration of the urine during or after exercise. That’s the reason why affected dogs of this breed should not be used as hunting dogs since they collapse and develop tetraparesis to tetraplegia after 30 to 120 minutes of exercise.
Breeds
German Hunting Terrier, Great Dane, Labrador Retriever
Detailed description
Centronuclear myopathy (CNM) in Labrador Retrievers, formerly known as hereditary myopathy in Labrador Retrievers (HMLR), was described in the 1970ies for the first time. CNM as a disease causes dysplasia of the dogs muscles. Therefore, affected dogs lack tendon reflexes and gain less weight than puppys of the same age (4 weeks). Obvious symptoms of HMLR first occur at weeks 12 to 20 and include general amyosthenia, aberrant bearing, awkward gait and trouble with ingestion. Affected animals exhibit low stamina and collapse when exposed to coldness. Stress causes amyotrophia, that affects head muscles at times. The same disease appears in Great Danes.
Another variant has been found to be assoziated with myopathy in the breed German Hunting Terrier. In this breed, the disease is also called Excercise induced metabolic myopathy (EIMM). EIMM is caused by an autosomal recessive inherited deficiency of acyl-CoA dehydrogenase (VLCAD) and therefore of the fatty acid oxidation which results in insufficient energy production in the muscles. Affected dogs show signs of exercise induced weakness, muscle pain, rhabdomyolysis and brownish discoloration of the urine during or after exercise. That’s the reason why these dogs should not be used as hunting dogs since they collapse and develop tetraparesis to tetraplegia after 30 to 120 minutes of exercise. Due to muscle damage, blood analysis show increased values of creatine kinase activity (CK) and alanine transaminase activity (ALT) as well as increased concentrations of tetradecenoylcarnitine (C14:1). First symptoms could be observed at the age of 7 to 24 months.
Hereditary myopathy (CNM) - German Hunting Terrier
A genetic variant has been found to be assoziated with myopathy in the breed German Hunting Terrier. In this breed, the disease is also called Excercise induced metabolic myopathy (EIMM). EIMM is caused by an autosomal recessive inherited deficiency of acyl-CoA dehydrogenase (VLCAD) and therefore of the fatty acid oxidation which results in insufficient energy production in the muscles. Affected dogs show signs of exercise induced weakness, muscle pain, rhabdomyolysis and brownish discoloration of the urine during or after exercise. That’s the reason why these dogs should not be used as hunting dogs since they collapse and develop tetraparesis to tetraplegia after 30 to 120 minutes of exercise. Due to muscle damage, blood analysis show increased values of creatine kinase activity (CK) and alanine transaminase activity (ALT) as well as increased concentrations of tetradecenoylcarnitine (C14:1). First symptoms could be observed at the age of 7 to 24 months.
Order details
Test number | 8073 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 5-7 working days |
Test specifications
Symptom complex | muscular |
Age of onset | 7-24 months |
Causality | causally |
Gene | ACADVL |
Mutation | C-A |
Literature | OMIA:002140-9615 |
Hereditary myopathy (CNM) - Great Dane
Centronuclear myopathy (CNM) in Great Danes causes dysplasia of the dogs muscles. Therefore, affected dogs lack tendon reflexes and gain less weight than puppys of the same age (4 weeks). Obvious symptoms of CNM first occur at weeks 12 to 20 and include general amyosthenia, aberrant bearing, awkward gait and trouble with ingestion. Affected animals exhibit low stamina and collapse when exposed to coldness. Stress causes amyotrophia, that affects head muscles at times.
Order details
Test number | 8073 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 5-7 working days |
Test specifications
Symptom complex | muscular |
Causality | causally |
Gene | BIN1 |
Mutation | A-G |
Literature | OMIA:001660-9615 |
Hereditary myopathy (CNM) - Labrador Retriever
Centronuclear myopathy (CNM) in Labrador Retrievers, formerly known as hereditary myopathy in Labrador Retrievers (HMLR), was described in the 1970ies for the first time. CNM as a disease causes dysplasia of the dogs muscles. Therefore, affected dogs lack tendon reflexes and gain less weight than puppys of the same age (4 weeks). Obvious symptoms of CNM first occur at weeks 12 to 20 and include general amyosthenia, aberrant bearing, awkward gait and trouble with ingestion. Affected animals exhibit low stamina and collapse when exposed to coldness. Stress causes amyotrophia, that affects head muscles at times.
Order details
Test number | 8073 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 5-7 working days |
Test specifications
Symptom complex | muscular |
Age of onset | 4 weeks (from 12-20 weeks clearer) |
Causality | causally |
Gene | PTPLA |
Mutation | INS |
Literature | OMIA:001374-9615 |