Paula and Bobby
Parents of Lillie
Benign Neonatal Sleep Myoclonus
What is Benign Neonatal Sleep Myoclonus?
Benign Neonatal Sleep Myoclonus is a rare disease. It is also known as Myoclonus - benign neonatal sleep myoclonus..
This is a self-limited non-epileptic syndrome seen only in the first few weeks of life and confined to the sleeping state, though it may occur in any stage of sleep. There are bouts of repetitive jerking which resolve spontaneously at about 6 months. They last about 20 minutes, and can either involve the trunk and limbs synchronously or the upper or lower limbs predominantly. At times, the jerks may appear to migrate from one extremity to the other. The EEG is always normal, both during and between bouts. Most cases are single, but Dooley (1984) has reported sibs and a parent might have been affected in the report by Daoust-Roy and Seshia, (1992). Five siblings with this condition were reported by Vaccario et al., (2003). It occurred only in non-REM sleep, and these authors confirm that the condition is self limiting.
Two sibs and their cousin were reported by Cohen et al., (2007). The jerking stopped within 4 months and subsequent development was normal.
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
What gene changes cause Benign Neonatal Sleep Myoclonus?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Benign Neonatal Sleep Myoclonus?
The typical symptoms of the syndrome are:
How does someone get tested for Benign Neonatal Sleep Myoclonus?
The initial testing for Benign Neonatal Sleep Myoclonus can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.