Health and Fitness

Tietze Syndrome Overview Tietze syndrome (Tietze’s disease) is a rare inflammatory condition that affects the cartilage in your rib cage. It causes musculoskeletal chest pain and swelling at the front and top part of your chest wall. Your upper ribs (the first 10) have cartilage tips (costal cartilage) where they connect to your sternum (breastbone). The joints where these tips connect (costochondral joints) also have cartilage in them. General inflammation of the cartilage in your rib cage is called costochondritis. But Tietze syndrome is more specific. It typically affects just one of your top four ribs. It’s also distinctive for causing noticeable swelling. Healthcare providers aren’t sure what causes Tietze syndrome (also called costochondral junction syndrome). But it doesn’t seem to be serious. You can treat it at home with rest and pain relievers. Symptoms What are Tietze syndrome symptoms? The most obvious way Tietze syndrome will affect you is by the pain in your chest, which ...

Otulipenia Overview Otulipenia is an extremely rare autoinflammatory disease caused by mutations in the OTULIN gene. The resulting protein deficiency leads to uncontrolled systemic inflammation and severe tissue damage. Symptoms typically emerge in the first weeks of life and include recurring fevers, painful swollen joints, skin rashes, diarrhea, and failure to thrive. Symptoms Recurring Fevers: Unexplained, episodic fevers that are not caused by typical infections. Skin Rashes: Red, inflammatory rashes which often present as painful nodules or bumps due to inflammation in the fatty tissue beneath the skin (panniculitis). Joint and Muscle Pain: Swollen, painful joints (arthritis/arthralgia) and muscle pain (myalgia). Gastrointestinal Issues: Chronic diarrhea, abdominal pain, and overall intestinal inflammation. Failure to Thrive: Infants severely struggle to grow and gain weight at a normal, healthy rate. Lipodystrophy : An abnormal distribution or loss of fatty tissue in the body...

Aicardi-Goutières syndrome (AGS)  Overview Aicardi-Goutières syndrome (AGS) is a rare, inherited autoimmune and neurological disorder. It primarily affects the brain, immune system, and skin by causing the body to overproduce a chemical messenger called interferon. This triggers the immune system to attack the brain’s white matter, resulting in permanent damage. Symptoms Early-Onset (Congenital) AGS Infants with early-onset AGS present at birth, often mimicking a congenital infection.Brain, liver, and spleen inflammation Low platelet counts and bleeding issues (thrombocytopenia)Slower head growth leading to microcephaly (smaller head size)Seizures and trouble feeding Rapid, involuntary twitching of the face and limbs Later-Onset AGS Most infants with AGS develop normally for their first few weeks or months of life before showing rapid neurological and physical regression. Neurological & Motor: Extreme irritability, inconsolable crying, weak or stiffened muscles (spasticity), an...

Nystagmus Overview Nystagmus (pronounced “ni-STAG-muhs”) is a condition where your eyes make rapid, repetitive, uncontrolled movements. Your eyes may move in different directions: Side to side (horizontal nystagmus). Up and down (vertical nystagmus). In a circle (rotary or torsional nystagmus). The movements can follow different patterns. Your eyes may: Drift in one direction and then jerk in the opposite direction to correct (jerk nystagmus). Drift back and forth in a steady, pendulum-like motion (pendular nystagmus). These eye movements can cause problems with vision, depth perception, balance and coordination. Types of nystagmus Nystagmus affects both children and adults. There are two types: congenital or infantile (onset at birth or in the first few months of life) and acquired (onset after 6 months of age). Congenital or infantile nystagmus Babies born with nystagmus usually show symptoms between 6 weeks and 3 months of age. Sometimes, parents pass nystagmus on to their children,...

Otosclerosis Overview What is otosclerosis? Otosclerosis (oh-tuh-skli-ROH-sis) is a condition that causes hearing loss. The term “oto” means “of the ear” and “sclerosis” means “abnormal hardening of body tissue.” Otosclerosis happens when irregular bone remodeling/growth occurs in your middle ear or, more rarely, your inner ear. Bone remodeling is a lifelong process in which existing bone tissue repeatedly restores itself. In otosclerosis, irregular bone remodeling interferes with sound’s ability to travel through your ear. People with otosclerosis can develop mild to severe hearing impairment. The condition rarely results in total deafness. It typically affects both ears, but one ear is usually worse than the other. Symptoms The most common symptom of otosclerosis is hearing loss which happens gradually. People with otosclerosis may notice that they can no longer hear whispering or low-pitched tones/sounds. In most cases, people with otosclerosis have hearing loss in both ears. Approx...

Primary Myelofibrosis Overview Primary myelofibrosis (PMF) is a rare bone marrow disorder that is characterized by abnormalities in blood cell production (hematopoiesis, the process by which the body makes new blood cells) and scarring (formation of fibrous tissue, the buildup of stiff scar-like tissue) within the bone marrow.1-5   Bone marrow is the soft, spongy tissue that fills the center of most bones, and it contains specialized cells called hematopoietic stem cells (early “parent” cells that can develop into all types of blood cells). These stem cells grow and eventually develop into one of the three main types of blood cells: red blood cells (erythrocytes), which carry oxygen throughout the body; white blood cells (leukocytes), which help fight infection; or platelets (thrombocytes), which help the blood clot to stop bleeding.1, 2   The symptoms associated with primary myelofibrosis vary from person to person and are related to the abnormalities affecting bloo...