Myopathy, Congenital Non Progressive, with Moebius Sequence and Robin Sequence

What is Myopathy, Congenital Non Progressive, with Moebius Sequence and Robin Sequence?

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 gene are responsible for causing the syndrome.

It is 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
Pierre Robin complex of symptoms- a small jaw, the downward displacement of the tongue 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 does someone get tested for Myopathy, Congenital Non Progressive, with Moebius Sequence and Robin Sequence?

The initial testing for Myopathy, Congenital Non Progressive, with Moebius Sequence and Robin Sequence can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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