Health and Fitness

Ankyrin-B syndrome Overview Ankyrin-B syndrome is an inherited heart rhythm disorder caused by mutations in the ANK2 gene that disrupt electrical signaling in cardiac muscle cells. It is an autosomal-dominant condition, meaning one copy of the altered gene in each cell is enough to cause the disorder.The ANK2 gene makes the ankyrin-B protein, which acts as an anchor to place ion channels and transporters in the correct spots on heart cell membranes.When mutations cause a loss of function, ion and calcium regulation fails, leading to abnormal heartbeats. Symptoms Bradycardia: A resting heart rate that is much too slow. Sinus arrhythmia: An irregular heartbeat pattern originating from the heart's natural pacemaker. Atrial fibrillation: Chaotic and uncoordinated electrical signals in the upper chambers of the heart. Conduction block: Delays or stops in the electrical signals moving between the heart's chambers. Prolonged QT interval : A delay in how long the heart takes to "...

Gillespie syndrome Overview Gillespie syndrome is an ultra-rare genetic disorder defined by a classic triad of partial aniridia (missing parts of the iris), cerebellar ataxia (balance and coordination problems), and mild to moderate intellectual disability. Symptoms Eye (Ocular) Symptoms Partial aniridia: Underdevelopment or partial absence of the colored part of the eye (iris) in both eyes. Scalloped pupils: A unique, uneven scalloped pattern at the inner edge of the iris. Fixed dilated pupils: Enlarged pupils that do not constrict when exposed to light. Photophobia : Increased sensitivity to light.Nystagmus: Rapid, involuntary eye movements Reduced visual acuity : Blurry vision. Balance and Movement (Neurological) Symptoms Cerebellar ataxia : Poor balance, lack of coordination, and an unsteady gait (walking pattern) caused by underdevelopment of the cerebellum. Congenital hypotonia: Weak muscle tone present from birth. Motor delay : Late achievement of developmental milestones, s...

Christianson Syndrome Overview What is Christianson syndrome? Christianson syndrome is a rare genetic disorder. It causes severe problems with your nervous system. People with this condition have trouble walking and speaking. They typically also have developmental delays or intellectual disabilities. People with Christianson syndrome often start showing symptoms of the condition when they’re infants. Who does Christianson syndrome affect? Christianson syndrome mostly affects males. The condition is an “X-linked genetic disorder.” This means it occurs because of a change (mutation) in X chromosomes. Why does Christianson syndrome only affect males? Females have two X chromosomes, while males have one X chromosome and one Y chromosome. If a female has the mutation that causes Christianson syndrome on one X chromosome, they still have one functioning X chromosome. Because of this, they aren’t likely to develop Christianson syndrome. If a male has the gene mutation, they have no other X ch...

Angelman syndrome Overview Angelman syndrome is a rare genetic condition that affects the nervous system. It happens when the maternal UBE3A gene does not work as expected. This change leads to delayed development, trouble with speech, challenges with balance and movement, and intellectual disability. Seizures also are common. Many children with Angelman syndrome smile or laugh often and appear easily excited. These behavior traits may be early clues for families and care teams. Delays in maturing, called developmental delays, begin between about 6 and 12 months of age. The delays often are the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old. People with Angelman syndrome tend to live close to a typical lifespan. But the condition can't be cured. Treatment focuses on supporting development, building communication skills, and managing medical, sleep and developmental issues. Symptoms Early signs of Angelman syndrome can be subtle at first, ...

Malignant hyperthermia Overview Malignant hyperthermia is a severe reaction to certain drugs used for anesthesia. This severe reaction typically includes a dangerously high body temperature, rigid muscles or spasms, a rapid heart rate, and other symptoms. Without prompt treatment, the complications caused by malignant hyperthermia can be fatal. In most cases, the gene that puts you at risk of malignant hyperthermia is inherited, though sometimes it's the result of a random genetic change. Genetic testing can reveal whether you have an affected gene. This genetic disorder is called malignant hyperthermia susceptibility (MHS). Treatments for malignant hyperthermia include the medication dantrolene (Dantrium, Revonto, Ryanodex), ice packs and other measures to cool body temperature, as well as supportive care. Symptoms In most cases, no signs or symptoms of susceptibility to malignant hyperthermia exist until you're exposed to certain drugs used for anesthesia. Signs and symptoms ...

Androgenetic alopecia Overview Androgenetic alopecia is a common, genetically determined form of gradual hair loss driven by sensitivity to male sex hormones like dihydrotestosterone (DHT). Symptoms General Signs Gradual onset: Hair loss develops slowly over years.No pain or itching: The scalp usually feels normal without redness, scaling, or irritation. Hair miniaturization: Thick strands slowly turn into thin, short, wispy peach fuzz. Symptoms in Men Receding hairline: Hair starts pulling back at the temples. M or U shape: The hairline forms a distinct "M" or "U" shape. Crown thinning: Hair thins or forms a bald spot at the top back of the head (vertex).Symptoms in Women Widening part: The center part in the hair gets broader over time.Preserved hairline: The front hairline usually stays in place. Diffuse thinning: Volume decreases across the top of the head rather than creating smooth bald spots. Causes Hormones (DHT): An enzyme called 5-alpha-reductase conv...