Search Results
Displaying 11 - 20 of 164
… meck-pea-two) gene. The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding … (curving in the spine) and heart problem. Occupational therapy may help children develop skills needed for everyday … like dressing, eating, and drawing, while physical therapy and water therapy (hydrotherapy) can help with …
… to or from the brain is damaged or reduced below the site of injury to the spinal cord. It is associated with … of leg movements Loss of or change in sensation below the site of the injury Loss of bladder control Painful sensations … For information about participating in clinical research visit NIH Clinical Research Trials and You . Learn about …
… On this page What is Reye's syndrome? Reye's syndrome (RS) is a rare disorder that affects many parts of … Seizures Loss of consciousness Coma People with Reye’s syndrome may bleed more if cut or injured, and blood may not … Reye's syndrome (RS) is a rare disorder that affects many parts of …
… On this page What is Tourette syndrome? Tourette syndrome (TS) is a neurological disorder that may cause … occur before the development of vocal tics. Tourette syndrome affects more boys than girls. Most people with TS … Tourette syndrome (TS) is a neurological disorder that may cause you …
… On this page What is empty sella syndrome (ESS)? Empty sella syndrome (ESS), also called arachnoidocele, is a rare … shows the gland filling the sella completely. Empty sella syndrome (or ESS) is diagnosed when the sella appears empty … Empty sella syndrome (ESS) is a disorder that involves the sella turcica, …
… condition that causes an irresistible urge to move the legs. RLS is a sleep disorder triggered by resting and … accompanied by uncomfortable sensations in their legs. The sensations may feel like aching, throbbing, pulling, … as soon as movement ceases. RLS symptoms may vary from day to day and from person to person. With moderately severe …
… On this page What is central pain syndrome? Central pain syndrome is a neurological condition caused by damage to … Brain Or Spinal Cord Trauma Parkinson's Disease The pain associated with central pain syndrome differs widely … Central pain syndrome is a neurological condition caused by damage to …
… On this page What is cerebro-oculo-facio-skeletal (COFS) syndrome? Cerebro-oculo-facio-skeletal (COFS) syndrome—also known as COFS syndrome and Pena-Shokeir syndrome, Type II—is an inherited, … Cerebro-oculo-facio-skeletal (COFS) syndrome—also known as COFS syndrome and Pena-Shokeir …
… treatment options. Search for Clinical Trials How can I or my loved one help improve care for people with … and past clinical studies and research results. Where can I find more information about Brown-Sequard syndrome? …
On this page
What is Coffin-Lowry syndrome?
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities. Some individuals also have cardiovascular disease. The disorder affects males and females, but symptoms are usually more severe in males. Neurological complications may include:
- Severe intellectual disability and delayed development in most cases (most severe in males)
- Reduced muscle tone (hypotonia)
- Seizures (in rare instances…