Health and Fitness

Juvenile Dermatomyositis Overview Juvenile dermatomyositis (JDM) causes inflammation in your skin, blood vessels and muscles. Common symptoms are muscle weakness and a skin rash. People start experiencing these symptoms during childhood. Juvenile dermatomyositis can cause muscle weakness that limits movements. Your child may have trouble standing up, climbing stairs, running or even brushing their hair. A diagnosis of any condition that limits your child’s daily activities can be disheartening. But treatment for JDM can manage symptoms effectively and improve your child’s quality of life. Symptoms Before diagnosis, you may notice early signs of juvenile dermatomyositis in your child, like: Fatigue. Fever. Joint stiffness or swelling. Lack of hunger. Muscle pain during usual activities. Muscles that feel tender when touched. Unexplained weight loss. Weakness. Rash on the face or hands, or sensitivity to the sun. JDM tends to cause two ongoing symptoms: a skin rash and muscle weakness. S...

 Jacobsen Syndrome Overview Jacobsen syndrome is a rare chromosomal disorder in which several genes on chromosome 11 are missing (deleted). This deletion happens at the end (terminus) of the long (q) arm of chromosome 11. Another name for the condition is 11q terminal deletion disorder. Losing a smaller part of 11q means fewer genes are affected. So, people with smaller deletions tend to have milder symptoms than people with larger deletions. People with smaller deletions have partial Jacobsen syndrome or partial monosomy 11q. Partial monosomy means a part of one chromosome in a pair is deleted. Jacobsen syndrome causes developmental delays, behavioral issues and distinctive facial features. Many children with the condition also have congenital heart defects. They also have an increased risk for a bleeding disorder called Paris-Trousseau syndrome. There isn’t a cure for Jacobsen syndrome, and life expectancy varies. Symptoms Symptoms of Jacobsen syndrome Jacobsen syndrome symptoms ...

Isolated cortical dysplasia Overview Isolated cortical dysplasia is a rare, genetic brain malformation where the cerebral cortex doesn't form properly, leading to drug-resistant epilepsy. This condition is often associated with intellectual disability and behavioral problems. Diagnosis is made through MRI and other imaging, and while the condition is lifelong, surgical removal of the affected brain tissue can help control seizures, according to the NIH and Epilepsy Foundation.  Symptoms Seizures   Focal seizures: Seizures that start in one part of the brain and may cause twitching, jerking, or a "frozen" feeling, but may not spread. Tonic-clonic seizures: Also known as grand mal seizures, these spread to both sides of the brain, causing full-body shaking and convulsions. Infantile spasms: A type of seizure that occurs in infants where they quickly extend and then flex their arms, legs, and neck. Other seizure types: Staring blankly, fluttering eyelids, and repetitive m...

 Iridogoniodysgenesis Overview Iridogoniodysgenesis is a rare, autosomal dominant disorder that affects the anterior segment of the eye, characterized by malformations of the iris stroma and trabecular meshwork. This often leads to iris hypoplasia (a lack of development), and a significant portion of affected individuals develop juvenile glaucoma, which is often resistant to medication and can cause vision loss. The condition is caused by abnormal development of neural crest cells, which are crucial for forming the eye's anterior segment structures.  Symptoms Ocular symptoms Iris hypoplasia: The iris is underdeveloped and may appear smooth with a loss of normal crypts and folds. Unusual eye color: Due to the hypoplastic iris, a dark gray or chocolate-brown color can be present because the inner pigmented layer is more visible. Glaucoma: Increased intraocular pressure can lead to juvenile glaucoma, often diagnosed in childhood or adolescence. Vision loss: Glaucoma can cause ...

Infantile Neuroaxonal Dystrophy (INAD) Overview Infantile neuroaxonal dystrophy (INAD) is a rare disease that causes fat substances (lipids) to build up on nerves. It affects nerve signals, leading to a gradual loss of muscle control, vision, speech and intellectual development. These symptoms typically appear in infancy but may occur as late as adolescence. An inherited gene change (mutation) causes INAD. It’s a type of lipid storage disorder. Unfortunately, there isn’t a cure for this life-threatening condition. What does “infantile neuroaxonal dystrophy” mean? You may better understand this disease when you break down each word’s meaning: Infantile: INAD is present at birth (a congenital disease). Symptoms typically appear during infancy and before a child is 3 years old. Neuroaxonal : The disease affects axons in nerve cells. Axons carry messages from your brain to the rest of your body. Dystrophy: Dystrophy is the medical term for disorders that cause tissues, organs and muscles...

Infantile myofibrillar myopathy (MFM) Overview Infantile myofibrillar myopathy (MFM) is a severe, inherited muscle disorder that appears in the first weeks of life, leading to rapid progression of muscle weakness, stiffness, and respiratory failure, often resulting in death within the first six months. It is characterized by the breakdown of muscle fibers (myofibrils) in both skeletal and cardiac muscles, and can also involve heart problems. This condition can be caused by mutations in genes like CRYAB, which provides instructions for making the αB-crystallin protein.  Symptoms Early infancy symptoms Weak crying Sleep apnea Recurrent respiratory tract infections Progressive stiffness of the trunk, abdomen, and limbs  Other common symptoms Muscle weakness, especially affecting breathing and movement Fatigue Cardiomyopathy (weakened heart muscle), which may be the first symptom Muscle pain (myalgia) Loss of sensation in the limbs (peripheral neuropathy) Skeletal problems like jo...

Immunodeficiency Overview Immunodeficiency disorders prevent your body from fighting infections and diseases as well as it should. This type of disorder can make it easier for you to develop viral or bacterial infections. Immunodeficiency disorders are either congenital or acquired. A congenital, or primary, disorder is one you were born with. An acquired, or secondary, disorder is one you get later in life. Acquired disorders are more common than congenital disorders. Your immune system includes the following organs: spleen tonsils bone marrow lymph nodes These organs create and release lymphocytes, which are white blood cells classified as B cells and T cells. B and T cells fight invaders by detecting specific parts of them known as “antigens.” B cells release antibodies specific to the antigen that your body detects. T cells can destroy foreign or atypical cells. Your B and T cells might need to fight off: bacteria viruses cancer cells parasites An immunodeficiency disorder disrupts...

Hypokalemic Periodic Paralysis Overview Hypokalemic periodic paralysis (hypoPP) causes sudden episodes (attacks) of extreme muscle weakness or paralysis. These attacks can last for hours or even days. This rare genetic condition can start in childhood, teen years or adulthood. Most people have their first attack before age 35. Hypokalemia means potassium levels in your blood are too low. Potassium is a mineral that helps your muscles work. During attacks, you may have low potassium in your blood. When an attack happens, it can feel overwhelming. Your body may not move the way you expect, and that can bring fear or frustration. Getting a clear diagnosis can take time. But once you have it, you and your healthcare provider can work on a plan to manage symptoms. Treatment may not stop every attack, but it can reduce how often they happen and how severe they feel. Types of hypokalemic periodic paralysis There are two main types. Each links to a different gene. These affect how your muscles...

Hypereosinophilic syndrome Overview Hypereosinophilic syndrome is organ damage or dysfunction caused by an excess of disease-fighting white blood cells called eosinophils. Hypereosinophilic syndrome (hy-per-ee-o-SIN-o-phil-ik) is rare. It can affect any tissues in the body. Common targets include the skin, lungs, digestive tract, heart and nervous system. If a condition is found to cause hypereosinophilic syndrome, then treating the underlying condition also may lower eosinophil levels. Other treatments include medicines that reduce the number of eosinophils in the bloodstream. Symptoms Symptoms of hypereosinophilic syndrome (HES) vary depending on what organs are affected. Early symptoms of HES may include: Fatigue. Cough. Shortness of breath. Muscle pain. Swelling in deep layers of the skin. Rash. Fever. Causes Eosinophils are important in fighting parasites and bacteria. They also regulate other immune system cells and proteins that cause allergic reactions. HES occurs when high lev...

 Hydatid Disease Overview Hydatid disease is a parasitic infection caused by a tapeworm’s eggs. Tapeworms usually live in hosts such as sheep and dogs. But humans can get the disease if they accidentally eat or drink anything infected with the parasite. Hydatid disease is rare in North America. Hydatid disease, also called cystic echinococcosis or hydatidosis, causes cysts (liquid-filled growths) to develop in your liver or other organs. Hydatid cysts can lead to serious health complications if they aren’t treated. Symptoms Hydatid disease may not cause any symptoms for many years. But as hydatid cysts grow in your liver, lungs or other organs they may cause: Bloody stools. Coughing. Discomfort in your abdomen or chest. Hives or skin rash. Jaundice (yellow skin). Lump or mass in your midsection. Nausea and vomiting. Shortness of breath. Unexplained weight loss. Complications The cysts can grow large enough to prevent affected organs from working properly. The cysts can also rupture...

Hutchinson-Gilford progeria syndrome Overview progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear healthy at birth. During the first year, symptoms such as slowed growth, loss of fat tissue and hair loss begin to appear. Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years. There's no cure for progeria, but new treatments and research show some promise for managing symptoms and complications. Symptoms Usually within the first year of life, you'll notice that your child's growth has slowed. But motor development and intelligence are not affected. Symptoms of this progressive disorder c...