X-linked Myotubular Myopathy
X-linked myotubular myopathy is a form of centronuclear myopathy caused by a mutation in the myotubularin (MTM1) gene.
Age of Onset: First few weeks of life
Sex Predisposition: Males are almost exclusively affected
Clinical Course:
Clinical signs worsen over time
Clinical signs worsen over time
Clinical Signs:
Posture and Appearance
Small stature
Cervical ventroflexion
Movement
Tetraparesis
Ataxia
Difficulty rising
Exercise-intolerance
Cranial Nerves
Dropped jaw
Dysphagia
Spinal Reflexes
Hyporeflexia
Muscle Atrophy
Diffuse muscle atrophy
Posture and Appearance
Small stature
Cervical ventroflexion
Movement
Tetraparesis
Ataxia
Difficulty rising
Exercise-intolerance
Cranial Nerves
Dropped jaw
Dysphagia
Spinal Reflexes
Hyporeflexia
Muscle Atrophy
Diffuse muscle atrophy
Diffuse neuromuscular
X-linked mutation in the myotubularin (MTM1) gene
For breed specific genetic testing, follow the links below:
https://labgenvet.ca/en/disease/myotubular-myopathy/
https://www.combibreed.com/myotubular-myopathy-boykin-spaniel/
For breed specific genetic testing, follow the links below:
https://labgenvet.ca/en/disease/myotubular-myopathy/
https://www.combibreed.com/myotubular-myopathy-boykin-spaniel/
To read more about this disease click below:
