#syngap1

New Story has been published on https://enzaime.com/rare-disease-day-feb-28/

Rare Disease Day Is Feb. 28

With Rare Disease Day just around the corner—on February 28—let’s take a look at two of the hundreds of rare diseases Kennedy Krieger is tackling right now: LBSL and SYNGAP1-related non-syndromic intellectual disability.Providers and family LBSL

LBSL is short for leukoencephalopathy with brain stem and spinal cord involvement with lactate elevation. It is a rare, progressive disorder that affects the brain and spinal cord. Its exact prevalence is unknown—worldwide, only about 100 cases have been reported.

Symptoms of LBSL include abnormal muscle stiffness, difficulty with coordination and walking, and problems with movement and sensation. Some patients require a wheelchair for mobility, some have epilepsy, and some have speech and learning difficulties. Because an individual with LBSL will tend to have a high level of lactate in his or her white brain matter, LBSL can be diagnosed using MRI technology.

This April 18 and 19, Kennedy Krieger will hold a two-day conference, “Help for Today, Hope for Tomorrow,” with the aim of helping families with a child with LBSL better manage the symptoms and progression of the disease.

The conference will provide attendees with opportunities to meet and network with one another, and will feature presentations by clinical experts on topics such as disease management, genetics, nutrition, physical therapy and exercise strategies, overcoming social challenges, updates on clinical and pre-clinical research, and the different faces of LBSL.

Register Now

One of the conference’s sponsors is the foundation “A Cure for Ellie.” Click here to read about Ellie, who was diagnosed with LBSL as a little girl and is being treated for her symptoms at Kennedy Krieger with supplements chosen to boost the functioning of her mitochondria. SYNGAP1-Related Non-Syndromic Intellectual Disability

Last November, the Institute hosted a two-day conference on SYNGAP1-related non-syndromic intellectual disability, a form of cognitive impairment evident in early childhood. Symptoms of SYNGAP1 disorders can include weak muscle tone (hypotonia) and delayed development of speech and motor skills. Seizures (epilepsy) and diagnoses of hyperactivity and autism are common among individuals with the disability.

These symptoms result from mutations in the SYNGAP1 gene, which provides instructions for making the SynGAP protein found at the junctures between nerve cells in the brain. The mutation is usually a spontaneous one—typically, it is neither inherited from a parent nor caused by environmental factors. However, if one parent contributes an abnormal SYNGAP1 gene, a child can develop symptoms. The Genetic Testing Registry, at the U.S. National Library of Medicine’s National Center for Biotechnology Information, provides information about genetic tests for this condition.

This disability is estimated to account for 1 to 2 percent of intellectual disability cases, making it a rare diagnosis, with only about 1 million individuals affected worldwide. The condition appears to be equally prevalent in men and women.

Diagnosis can be challenging, as brain imaging techniques such as MRIs don’t usually show any specific neural abnormalities. Physicians often begin the diagnosis process with a genome-wide test to identify gene mutations.

There are no known disease-altering treatments for SYNGAP1-related non-syndromic intellectual disability. Treatment plans are based on the signs and symptoms present in each person.