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: 6-8 weeks of age
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 at birth
Ventroflexion of the neck (cervical muscle weakness)
Sternal recumbency
Thoracolumbae kyphosis
Movement
**Ambulatory tetraparesis
Difficulty rising
Exercise-intolerance
Cranial Nerves
Facial paresis
Spinal Reflexes
Reduced segmental spinal (patellar and withdrawal) reflexes
Muscle Atrophy
Generalized muscle atrophy without myalgia (involving appendicular, masticatory, and paraspinal muscles)
Posture and Appearance
Small at birth
Ventroflexion of the neck (cervical muscle weakness)
Sternal recumbency
Thoracolumbae kyphosis
Movement
**Ambulatory tetraparesis
Difficulty rising
Exercise-intolerance
Cranial Nerves
Facial paresis
Spinal Reflexes
Reduced segmental spinal (patellar and withdrawal) reflexes
Muscle Atrophy
Generalized muscle atrophy without myalgia (involving appendicular, masticatory, and paraspinal muscles)
Diffuse neuromuscular
X-linked mutation in the myotubularin (MTM1) gene
For breed-specific genetic testing, click the link(s) below:
vgl.ucdavis.edu/test/xlmtm-rottweiler#:~:text=Testing%20for%20for%20XLMTM%20in,of%20them%20will%20be%20carriers.
www.genomia.cz/en/test/mtm1-rtw/
https://www.wisdompanel.com/en-us/dog-health-conditions/myotubular-myopathy
For breed-specific genetic testing, click the link(s) below:
vgl.ucdavis.edu/test/xlmtm-rottweiler#:~:text=Testing%20for%20for%20XLMTM%20in,of%20them%20will%20be%20carriers.
www.genomia.cz/en/test/mtm1-rtw/
https://www.wisdompanel.com/en-us/dog-health-conditions/myotubular-myopathy
To read more about this disease click below:
