Health and Fitness

Prader-Willi syndrome Overview Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic condition that leads to physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a sense of being hungry all the time. People with Prader-Willi syndrome want to eat all the time because they never feel full. This is called hyperphagia. As a result, they usually find it hard to manage their weight. Many complications of Prader-Willi syndrome are due to obesity. A team of different types of specialists can best manage the symptoms of Prader-Willi syndrome. The team approach to this complex condition makes complications less likely and improves quality of life. Symptoms Symptoms of Prader-Willi syndrome, which can vary, slowly change over time from childhood to adulthood. Infants Symptoms that may be present from birth include: Poor muscle tone. A main sign during infancy is poor muscle tone, also known as hypotonia. Babies may rest with their elbows and knees loosely extende...

Progressive Myoclonic Epilepsy With Ataxia Overview Progressive Myoclonic Epilepsy with Ataxia (PMEA) is a group of rare neurological disorders characterized by involuntary muscle jerking (myoclonus), unsteadiness (ataxia), and epilepsy. These conditions involve progressive neurological deterioration, including worsening ataxia and movement problems, with some forms also causing dementia. PMEA is often genetic, with symptoms appearing in childhood, and while there's no cure, treatment focuses on managing symptoms like seizures and muscle jerks.  Symptoms Individuals with progressive myoclonic epilepsy and ataxia may experience a range of symptoms, including: Myoclonus: Brief, shock-like jerks or twitches of muscles.  Ataxia: Problems with balance, coordination, and an unbalanced, wide-based gait.  Seizures: Episodes of loss of consciousness, muscle rigidity, and convulsions (tonic-clonic seizures).  Dysarthria: Difficulty speaking due to muscle involvement.  ...

Primary immunodeficiency Overview Primary immunodeficiency disorders — also called primary immune disorders or primary immunodeficiency — weaken the immune system, allowing infections and other health problems to occur more easily. Many people with primary immunodeficiency are born missing some of the body's immune defenses or with the immune system not working properly, which leaves them more susceptible to germs that can cause infections. So far, researchers have identified more than 300 forms of primary immunodeficiency disorders. Some forms are so mild they can go unnoticed until adulthood. Other types are severe enough that they're discovered soon after an affected baby is born. Treatments can boost the immune system in many types of primary immunodeficiency disorders. Research is ongoing, leading to improved treatments and enhanced quality of life for people with the condition. Symptoms One of the most common signs of primary immunodeficiency is having infections that are...

Primary dystonia type I overview Primary dystonia type I, also known as DYT1 dystonia, is an early-onset, inherited form of primary dystonia caused by a mutation in the TOR1A gene. It typically begins in childhood or adolescence, often starting in a limb and spreading over time to become generalized, though symptoms can sometimes be focal or appear in adulthood. There is no cure, but treatments like botulinum toxin injections and oral medications can help manage symptoms. Symptoms Involuntary Muscle Contractions: Muscles tighten, pulling the affected body part into an unusual, sustained, or spasm-like position.  Abnormal Postures: Sustained muscle contractions can lead to fixed, distorted postures, such as a tilted head or an inward-turned foot.  Repetitive or Twisting Movements: The same movement can be repeated slowly or jerkily, often when performing a specific action.  Task-Specific Symptoms: Symptoms may initially only occur during certain activities, like writing (w...

Pierre Robin Syndrome (Pierre Robin Sequence) Overview Pierre Robin syndrome (PRS), or Pierre Robin sequence, is a rare birth defect that happens during fetal development. It’s a group of conditions that affect your baby’s jaw and mouth so it may be hard for them to breathe, nurse or feed from a bottle. Most babies receive a diagnosis right after they’re born. Your baby’s healthcare providers will recommend treatment and things that you can do to help your baby. They may use other names like Pierre Robin malformation when talking about this syndrome. Symptoms Pierre Robin syndrome causes physical differences that you and your baby’s healthcare team may notice right after your baby is born, including: Small lower jaw and chin (micrognathia). Cleft palate. Tongue that falls back toward their throat (glossoptosis). A high-arched palate (roof of the mouth). Teeth that are visible at birth (natal teeth). These physical differences from PRS may cause symptoms like: Stridor or stertor (noisy ...

Phelan-McDermid Syndrome Overview Phelan-McDermid syndrome is a rare genetic disorder that may cause a range of medical, intellectual and behavioral concerns. These concerns may include: Feeding difficulties. Muscle weakness. Speech and developmental delays. Autism spectrum disorder. Epilepsy. The disorder is also called 22q13.3 deletion syndrome. Symptoms The signs and symptoms of Phelan-McDermid syndrome vary widely. They may be mild, moderate or severe. They may appear at birth, during infancy or in early childhood. And they may be physical, behavioral, intellectual or a combination. Symptoms your child may have include: Developmental delay (not hitting milestones at expected times, such as rolling over, sitting up or walking). High pain tolerance. Muscle weakness (hypotonia). Speech problems (absent or delayed ability to talk). Sleep disorders. Tendency to sweat less than normal, which can lead to overheating and dehydration. Trouble eating or swallowing. Gastrointestinal issues li...