What is Myopathy, Congenital Non Progressive, with Moebius Sequence and Robin Sequence?
Myopathy, Congenital Non-Progressive, with Moebius Sequence and Robin Sequence, is a rare syndrome, also known as Carey Fineman Ziter syndrome, this rare genetic syndrome presents with low muscle tone as well as the Moebius sequence of symptoms, Pierre-Robin sequence, distinct facial features, and growth delay.
What gene changes cause Myopathy, Congenital Non-Progressive, with Moebius Sequence and Robin Sequence?
Mutations in the MYMK and MYMX genes are responsible for causing the two types of this syndrome.
Both types are inherited in an autosomal recessive pattern.
What are the main symptoms of Myopathy, Congenital Non-Progressive, with Moebius Sequence and Robin Sequence?
The main symptoms of Carey Fineman Ziter syndrome affect multiple parts and systems of the body. The main symptoms include,
- Low muscle tone (hypotonia)
- Moebius sequence of symptoms- bilateral facial palsy present at birth with an impaired ability of the eye to move in an outward position- also known as ocular abduction
- The Pierre Robin sequence is characterized by a small jaw, a tongue positioned lower than usual, and a cleft palate.
- Other possible symptoms associated with the syndrome include unique facial features, brain abnormalities, and intellectual disability. Some of these symptoms may be the result of muscle weakness during the development of affected individuals or the consequence of brainstem anomalies.
How is it diagnosed?
To find out if someone has a diagnosis of Myopathy, Congenital non-progressive, with Moebius Sequence and Robin Sequence, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
