Health and Fitness

Familial Mediterranean Fever Familial Mediterranean fever (FMF) is a lifelong condition that causes recurring episodes of fever and inflammation throughout your body. It’s a genetic disorder that mainly affects people of Mediterranean origin. It’s one of the recurrent fever syndromes, which are autoinflammatory diseases. FMF triggers inflammation in your serous membranes (serositis) and your synovial membranes (synovitis). Episodes typically last a few days and can involve abdominal pain, chest pain, joint pain and other symptoms. Symptoms of familial Mediterranean fever usually start to appear in childhood, before the age of 20. They’re often severe in the early years and become less frequent and less intense with age. Between episodes, you may be symptom-free for weeks, months or years. Early diagnosis and treatment can help reduce your symptoms and prevent potential long-term complications, like amyloidosis. Symptoms and Causes Symptoms of familial Mediterranean fever Familial Medit...

 FSHD (Facioscapulohumeral Muscular Dystrophy) Overview Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy (MD). FSHD symptoms typically start in the muscles in your face and upper body but can spread to any muscle in your body. FSHD is an inherited disorder, with symptoms that can start in infancy but typically develop between adolescence and age 20 to 30. There’s no cure, but there are therapies to ease your symptoms and help you keep your quality of life. Types of facioscapulohumeral muscular dystrophy The two types of FSHD cause the same symptoms, but happen for different reasons: FSHD1 , which accounts for 95% of cases, happens when a gene that’s supposed to be inactive in most of your cells becomes active. The reactivated gene makes proteins that destroy muscle cells. FSHD2 accounts for the remaining cases. Like FSHD1, protein from a reactivated gene damages muscle. But FSHD2 happens when a different gene mutates, or changes, creating a situa...

Episodic Ataxia Overview Ataxia is a neurological condition that causes problems with movement, balance and speaking. There are different types of ataxia. Episodic ataxia (EA) is one type. EA causes periods (episodes) of movement and balance problems. These episodes have a clear beginning and end. There may be some symptoms that also persist between these episodes. What are other types of ataxia? There are many types of ataxia. Your provider determines what type you have based on your symptoms and how the condition developed. Some types of ataxia are progressive (always present, gradually worsening over time). Some types of ataxia are inherited from your parents (genetic), while other types begin suddenly or because of a degenerative condition (acquired). Different types of ataxia cause different symptoms, like problems with: Muscle Swallowing. Who might get episodic ataxia? People who have changes (mutations) in certain genes from their parents might develop episodic ataxia. But some ...

Trimethylaminuria (Fish Odor Syndrome) Overview Trimethylaminuria (trī-meth'il-am-i-nyūr'ē-ă) is a metabolic disorder that makes your sweat, breath, saliva and pee smell like rotten fish. Metabolic disorders affect how your body processes nutrients and enzymes. Healthcare providers may refer to this condition as TMAU or fish odor syndrome. There’s no cure for TMAU. But changing the kinds of food that you eat, using certain soaps and lotions, and managing stress can help reduce trimethylaminuria symptoms. Types of TMAU Trimethylaminuria may be primary or secondary: Primary trimethylaminuria: People with primary TMAU inherit certain genetic mutations (changes) from their biological parents. Secondary trimethylaminuria: Some medical conditions and dietary supplements may lead to fish odor syndrome. Symptoms and Causes What are the symptoms of trimethylaminuria? People with TMAU give off an unpleasant nauseating odor that people describe as smelling like rotten fish. The odor may ...

 Pheochromocytoma Overview A pheochromocytoma (fee-o-kroe-moe-sy-TOE-muh) is a rare tumor that grows in an adrenal gland. Most often, the tumor is not cancer and has not spread to other parts of the body. This is called benign or nonmetastatic pheochromocytoma. Rarely, the tumor is cancer and has spread to other parts of the body. This is called malignant or metastatic pheochromocytoma. You have two adrenal glands — one at the top of each kidney. The adrenal glands make hormones that help control key processes in the body, such as blood pressure. Usually, a pheochromocytoma forms in only one adrenal gland. But tumors can grow in both adrenal glands. With a pheochromocytoma, the tumor releases hormones that can cause various symptoms. They include high blood pressure, headache, sweating and symptoms of a panic attack. If a pheochromocytoma isn't treated, serious or life-threatening damage to other body systems can happen. Surgery to remove a pheochromocytoma often returns blood pres...

Psychosis Overview Psychosis is disconnection from reality. People may have false beliefs or experience things that aren’t real. Psychosis isn’t a condition. It’s a term that describes a collection of symptoms. Two important types of psychosis include: Hallucinations . These are when parts of your brain mistakenly act like they would if your senses (vision, hearing, touch, smell and taste) picked up on something actually happening. An example of a hallucination is hearing voices that aren’t there (auditory hallucination). Delusions. These are false beliefs that someone holds onto very strongly, even when others don’t believe them or there’s plenty of evidence that a belief isn't true. For example, people with delusions of control believe someone is controlling their thoughts or actions remotely. Possible Causes What are the most common causes of psychosis? Psychosis is a common symptom of many mental health conditions. The America Psychiatric Association’s Diagnostic and Statistica...

  Ectodermal Dysplasias Overview The ectodermal dysplasias (EDs) are a heterogeneous group of nearly 100 inherited disorders characterized by anomalies in at least two of the structures derived from the embryonic ectoderm, with at least one involving the skin appendages (hair, nails, sweat glands) or teeth. Other tissues derived from the primitive ectoderm that can be involved in EDs include the mammary glands, adrenal medulla, central nervous system, inner ear, retina, optic lens, pigment cells and branchial arch cartilages. Advances in molecular genetics and developmental biology have led to the identification of the causative genes and developmental pathways in at least 80 of the EDs. Symptoms Each of the nearly 100 EDs has its own set of clinical signs and symptoms. Commonly, the conditions will have one or more of the following associated findings: Teeth: reduced number, abnormal shape or size Hair: abnormal structure, sparse, slow-growing, often light-colored Sweat glands: ...