Health and Fitness

 Juvenile CLN3 Disease OVERVIEW Juvenile CLN3 disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Juvenile CLN3 disease was previously called juvenile neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings. The symptoms of juvenile CLN3 disease usually become apparent between 5 and 15 years of age when progressive loss of vision, seizures, and progressive neurological degeneration develop. In ...

  Jumping Frenchmen of Maine OVERVIEW Jumping Frenchmen of Maine is an extremely rare disorder characterized by an unusually extreme startle reaction. The startle reaction is a natural occurrence. It is the normal, rapid, involuntary response to a sudden or unexpected stimulus (e.g., a sudden noise or sight). The exact cause of jumping Frenchmen of Maine is unknown. One theory is that the disorder occurs because of an extreme conditioned response to a particular situation influenced by cultural factors. Jumping Frenchmen of Maine was first identified during the late nineteenth century in Maine and the Canadian province of Quebec among an isolated population of lumberjacks of French Canadian descent. Jumping Frenchmen of Maine is one of a group of culturally specific similar disorders, the startle-matching syndromes, which have been described from various parts of the world. The relationship among these disorders is unknown. SYMPTOMS The symptoms of jumping Frenchmen of Maine usuall...

 Joubert Syndrome Overview Joubert syndrome is a rare genetic disorder that happens when the part of a fetus’s brain doesn’t develop as it should. The syndrome has many subtypes that cause different symptoms, but it typically causes issues with muscle control or muscle tone, breathing and eye movement. Each year, 1 in 100,000 babies worldwide are born with Joubert syndrome. Most children with Joubert syndrome inherit genetic mutations that cause it, but it can also happen sporadically (for no known reason) Symptoms Joubert syndrome causes different conditions and may change as children grow up. Symptoms may include physical differences, including facial differences, symptoms of certain eye conditions, and liver and kidney disease. Your child may have the following neurological issues or conditions: Hypotonia (decreased muscle tone) that becomes ataxia (issues with muscle coordination). Eye conditions like nystagmus or strabismus (crossed eyes). Breathing issues like tachypnea (fast...

  Johanson-Blizzard Syndrome OVERVIEW Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. However, characteristic features include insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature; abnormalities of permanent teeth; distinctive abnormalities of the skull and facial (craniofacial) region including a small “beak-shaped” nose; and/or varying degrees of intellectual disability. JBS is caused by mutations to the UBR1 gene. This genetic mutation is inherited as an autosomal...

  Pseudobulbar affect Overview Pseudobulbar affect (PBA) is a condition that's characterized by episodes of sudden uncontrollable and inappropriate laughing or crying. Pseudobulbar affect typically occurs in people with certain neurological conditions or injuries, which might affect the way the brain controls emotion. If you have pseudobulbar affect you'll experience emotions normally, but you'll sometimes express them in an exaggerated or inappropriate way. As a result, the condition can be embarrassing and disruptive to your daily life. Pseudobulbar affect often goes undiagnosed or is mistaken for mood disorders. Once diagnosed, however, pseudobulbar affect can be managed with medication. Symptoms It’s important to know the difference between mood and affect when understanding PBA. Mood is your subjective experience of an emotion. It’s your inner feelings, such as sadness, anger or happiness. Affect is the visible display of emotion that others can see, such as smiling, l...

 Jervell and Lange-Nielsen Syndrome OVERVIEW Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from person to person. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Physical activity, excitement, fright, or stress may trigger the onset of these symptoms. Fainting during the aforementioned activities is also a classic sign of JLNS. JLNS is usually detected during early childhood and is inherited as an autosomal recessive genetic disorder. More than half of the untreated cases of JLNS result in death before the age of 15. Anton Jervell and Fred Lange-Nielsen provided the first co...

  Jejunal Atresia Overview jejunal atresia is one of several types of intestinal atresia. The rare birth defect causes a portion of the membrane (mesentery) that connects the intestines to the abdominal wall to be malformed or missing. The abnormality leads to intestinal blockages (atresia). This article covers the symptoms and causes of jejunal atresia. It also looks at how ultrasounds and other tests can detect jejunal atresia and how it's treated. Symptoms  Atresia can often be diagnosed before a baby is born. Routine prenatal screenings may detect the condition because the signs of an intestinal blockage are usually visible on an ultrasound. Babies with atresia are sometimes born before their due date (preterm) and the symptoms of the condition usually appear within the first day or two after birth. The symptoms of jejunal atresia in newborns can include:1 Problems with feeding Throwing up a yellow-green fluid (bile) Failure to thrive Swollen belly No bowel movements CAUSE...

 Jansen Type Metaphyseal Chondrodysplasia OVERVIEW Jansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become apparent during early childhood. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals and metatarsals). Infants with Jansen type metaphyseal chondrodysplasia may also have characteristic facial abnormalities and additional skeletal malformations. During childhood, affected individuals may begin to exhibit progressive stiffening and swelling of many joints and/or an unusual “waddli...