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Centronuclear Myopathy/Centronuclear Myopathy/Hereditary Labrador Retriever Myopathy/Inherited Centronuclear Myopathy
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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A form of muscular dystrophy that results from a deficiency of type II muscle fibers. Labrador Retrievers may also be affected by a subtype of centronuclear myopathy known as X-linked Myotubular Myopathy
Age of Onset: 6 weeks-8 months, signs typically apparent from 8-12 weeks of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​Clinical signs typically worsen over time but may plateau after some months
Clinical Signs:
Behavioral/Mental Awareness 
Exercise intolerance
Reluctant to exercise

Posture and Appearance 
Head may be held in a lowered position
Posture is often kyphotic
Carpal overextension and carpal valgus
Palantigrade stance
Inability to retract the penis
Muscle fasciculations in face and hindlimbs

Movement 
Short strided gait
Bunny hopping gait in the pelvic limbs
Hypotonia
Collapse with exercise
Inability to stand
Tetraparesis

Spinal Reflexes 
Reduced to absent patellar and withdrawal reflexes

Special Functions (e.g. respiration; urination) 
Megaesophagus
Regurgitation


Muscle Atrophy 
Generalized muscle atrophy
 
Other

Clinical signs may be worse in cold environments
Neuromuscular
Autosomal recessive inheritance of PTPLA gene mutation. Often associated with yellow or black hair coats.

For breed specific genetic testing follow the links below:

https://vgl.ucdavis.edu/test/cnm-labrador
https://animalgenetics.com/dog-tests/canine-disorder-tests/23-cnm/
​https://tests.dnacenter.com/testing-pets-vets/dog-dna-testing/inherited-disease-screening/centronuclear-myopathy-in-labrador-retrievers/
To read more about this disease click below:
References
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