Health and Fitness

Oculocutaneous Albinism Overview Oculocutaneous albinism (OCA) is a rare genetic disorder that affects the color of your eyes, skin and hair. Having albinism means your body can’t produce and/or distribute a key pigment, melanin. Melanin is what gives your eyes, skin and hair their color, so your skin, hair and eyes may have much lighter coloration than expected. Not having enough melanin is also a major issue because your eyes need it to work correctly. Because oculocutaneous albinism can affect your appearance, it’s understandable to feel self-conscious about having it. And some of the effects of OCA can disrupt how your eyes work. That can be frustrating or even frightening. But there are treatments that may help limit the eye symptoms and effects of this disease. Symptoms OCA has many possible symptoms you can experience or see. It also has several clinical signs, which are differences or changes that a trained medical professional can find with specific methods or tests. Hair and ...

Ohtahara Syndrome Overview Ohtahara syndrome is a neurological disorder characterized by seizures.  The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures.  Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases can’t be determined.  Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres.  The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity.  This pattern is known as “burst suppression.” Doctors have observed that boys are more often affected than girls. Symptoms Tonic Seizures: Sudden stiffening of arms/legs, upward gaze, dil...

Neuronal ceroid lipofuscinosis Overview Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of rare, inherited neurodegenerative disorders causing buildup of fats and proteins (lipopigments) in nerve cells, leading to progressive vision loss, seizures, cognitive decline, movement problems, and early death. There are over a dozen types (e.g., CLN1, CLN2, CLN3) linked to different gene mutations, affecting infants, children, or adults with varying symptoms like developmental regression, behavioral changes, and eventual loss of motor and speech skills. Diagnosis involves genetic testing, and while treatments are limited, research explores gene therapy and enzyme replacement, but supportive care remains key.  Symptoms Vision Loss: Progressive decline leading to blindness, often an early sign. Seizures : Frequent and varied (myoclonic, generalized tonic-clonic). Cognitive/Intellectual Decline : Memory loss, dementia, impaired thinking. Motor Problems: Ataxi...

Nephronophthisis Overview Nephronophthisis (NPHP) is a genetic cystic kidney disease, the most common genetic cause of kidney failure in children, characterized by inflammation, scarring, and fluid-filled cysts, leading to inability to concentrate urine (polyuria), excessive thirst (polydipsia), and eventual end-stage renal disease (ESRD) usually by the late teens. It's an autosomal recessive condition linked to mutations in genes for proteins in the primary cilium, affecting kidney cells and sometimes other organs like the liver or eyes, with varying onset ages (infantile, juvenile, adolescent). Diagnosis involves ultrasound (revealing cysts/normal size kidneys) and blood tests, with management focusing on hypertension, anemia, and dialysis/transplant as needed.   Symptoms Polyuria & Polydipsia: Urinating large amounts of urine and drinking excessively. Nocturia/Enuresis : Waking up to urinate at night or bed-wetting. Fatigue & Weakness: Extreme tiredness and lack of...

IRF2BPL Overview Interferon regulatory factor 2 binding protein-like–related disorder (IRF2BPL–related disorder) is a very rare genetic condition. IRF2BPL refers to a gene that helps the brain and nervous system work properly.   Symptoms typically begin in childhood. Symptoms can start as early as the first 6 months of life. They can include:  Extra movements that can appear shaky, wiggly, dance-like, twisting, or stiff  Trouble controlling movements  Seizures  Loss or failure to attain developmental skills   This is a rare disorder. Experts are still learning about all the different symptoms that may be associated with it. A mutation is a change in a gene that causes it to not work properly. Mutations in the IRF2BPL gene can affect the brain and nervous system. The function of IRF2BPL is not yet known. Experts believe IRF2BPL is important for developing and maintaining healthy brain cells.   Symptoms usually begin in early childhood and...

Narcolepsy Overview Narcolepsy is a condition that makes people very sleepy during the day and can cause them to fall asleep suddenly. Some people also have other symptoms, such as muscle weakness when they feel strong emotions. The symptoms can have serious effects on daily life. People with narcolepsy have trouble staying awake for long periods of time. When narcolepsy causes a sudden loss of muscle tone, it is known as cataplexy (KAT-uh-plek-see). This can be triggered by a strong emotion, especially one that causes laughter. Narcolepsy is divided into two types. Most people with type 1 narcolepsy have cataplexy. Most people with type 2 narcolepsy don't have cataplexy. Narcolepsy is a lifelong condition and does not have a cure. However, medicines and lifestyle changes can help manage the symptoms. Support from family, friends, employers and teachers can help people cope with the condition. Symptoms The symptoms of narcolepsy may get worse during the first few years. Then they c...

Mitochondrial Diseases Overview Mitochondrial diseases are a group of conditions that affect how mitochondria work in your body. Mitochondria make energy in your cells. When mitochondria aren’t able to produce enough energy that your body needs, it affects how your organs function. Mitochondrial diseases can affect almost any part of your body, including the cells of your: Brain. Nerves. Muscles. Kidneys. Heart. Liver. Eyes. Ears. Pancreas. What are the types of mitochondrial disease? There are many types of mitochondrial diseases. Some of the most common include: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. Leber hereditary optic neuropathy (LHON). Leigh syndrome. Kearns-Sayre syndrome (KSS). Myoclonic epilepsy and ragged-red fiber disease (MERRF). Symptoms Symptoms of mitochondrial diseases vary based on the type and location of the affected cells. They can range from mild to severe and could include: Poor growth. Muscle weakness, muscle pa...