OVERVIEW
The muscular disorders presented here encompass a wide range of disorders and symptoms, all related to abnormal functionality of the muscle. Some diseases present themselves in newborns such as spinal muscular atrophy, while others are related to the progressive degeneration of muscle tissue, such as Duchenne muscular dystrophy. Muscular Dystrophies is the group of disorders that describes diseases which cause progressive weakness in the muscles the most common dystrophy is the X-linked disorder Duchenne muscular dystrophy which occurs 1:3,500 in males. Muscular Atrophes is the group of disorders that describes diseases which cause a progressive degeneration of the spinal nerves leading to wasting away of the muscles they control. Hereditary Myopathies primarily affect the skeletal muscle tissue and can cause feeding and breathing difficulties and delayed motor development. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for muscular disorders. The test can offer a molecular genetic diagnosis of a muscular disorder that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member show a symptom of a muscular disorder, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You/your child has
a muscle weakness and atrophy
You/your child shows
progressive muscle weakness
You/your child has
a weak heart muscle
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
