Kearns-Sayre syndrome is a neuromuscular disorder caused by abnormalities in mitochondrial DNA. Symptoms include limited eye movement, droopy eyelids, muscle weakness, heart problems, hearing loss, and diabetes. While there is no cure, symptoms can be treated individually. The disorder progresses slowly and can occur in anyone, usually before the age of 20. Kearns-Sayre syndrome, or […]
ANOTHER syndrome is an autosomal recessive form of ectodermal dysplasia that causes alopecia, nail dystrophy, skin lesions, and skin conditions. It also affects the thyroid, eyes, sweat glands, and respiratory tract. Patients may experience hair loss, skin lesions, and nail dystrophy. Hypohidrosis can be life-threatening, and eye problems can cause infections and difficulty seeing. Thyroid […]
Guyon’s canal syndrome is caused by pressure on the ulnar nerve in the wrist as it passes through Guyon’s canal. This can be due to injury, arthritis, or repetitive activities such as cycling or using heavy machinery. Symptoms include tingling and pain in the little finger and ring finger. Guyon’s canal syndrome, also known as […]
Wellens syndrome is an ECG wave pattern that precedes a severe stenosis of the proximal LAD artery in the heart, often seen in patients with a history of angina. It is indicated by a fluctuation in the T wave on leads V2 to V5 and requires immediate medical treatment. Wellens syndrome is essentially an electrocardiographic […]
Painful bladder syndrome is a chronic condition causing inflammation and swelling of the bladder lining, resulting in frequent urges to urinate and lower abdominal pain. It is not caused by infection and has no clear cure, but anti-inflammatory drugs and surgical techniques can help. The causes are unknown, but it may be linked to an […]
Fishy odor syndrome is a rare metabolic disorder caused by a lack of enzymes to digest trimethylamine, leading to a strong odor in sweat, urine, and other body fluids. It is not curable, but a low-protein diet, activated charcoal, and medication can help manage the odor. The condition is recessive and more noticeable in women, […]
Tethered cord syndrome (TCS) occurs when the spinal cord becomes attached to the spine, causing physical and developmental symptoms. It can be a birth defect or a side effect of spinal surgery. Symptoms include skin discoloration, foot deformities, and back pain. Surgery is the typical treatment, but follow-ups are necessary to ensure the cord has […]
Prune belly syndrome is a rare birth defect that affects newborns, particularly boys, causing underdeveloped abdominal muscles, urinary tract problems, and undescended testicles. Diagnosis involves blood tests, ultrasounds, and X-rays, and treatment typically involves surgery. Long-term complications can include kidney disease, ongoing urinary problems, and infertility. Prune belly syndrome is a serious birth defect. Generally, […]
Zellweger syndrome is a severe genetic disease that affects the brain and body’s metabolization. It is inherited in an autosomal recessive pattern and has no cure. Symptoms include developmental delays, vision or hearing difficulties, and enlarged liver. Medical interventions can slightly lengthen life, but decisions about treatment are difficult. Stem cell research may offer hope […]
Guillain-Barre syndrome is an autoimmune nerve disorder caused by a faulty immune system response. There is a possible link between the disorder and vaccination, particularly with flu shots, but studies have been inconsistent. While a slightly higher incidence rate of Guillain-Barre syndrome has been observed with the swine flu vaccine, catching the flu poses a […]
Brugada syndrome is a rare condition that affects the electrical activity of the heart, resulting in an irregular heartbeat. It can only be diagnosed through an electrocardiogram (ECG) test, and some individuals may never experience symptoms. Those at high risk may manage the condition with an implantable cardioverter-defibrillator (ICD). It is hereditary, and family members […]
Acute retroviral syndrome is an HIV-related infection that weakens the immune system and causes flu-like symptoms, often misdiagnosed as influenza. Early detection can prevent the spread of HIV and reduce damage to the immune system. Asymptomatic HIV infection can progress to AIDS, but antiretroviral therapy can strengthen the immune system. Acute retroviral syndrome is an […]
Budd-Chiari syndrome is a liver disease caused by blocked or narrowed hepatic veins, leading to swelling, pain, and organ failure. Genetic conditions, blood clots, liver injury, infections, and tumors can contribute to the disease. Symptoms develop slowly and treatment includes medication, surgery, and liver transplantation. Budd-Chiari syndrome is a blood vessel disease that affects the […]
Bardet-Biedl syndrome is a rare genetic disorder that affects cilia function and causes symptoms such as obesity, kidney failure, and learning disabilities. It is inherited in an autosomal recessive pattern and has no cure, but treatment focuses on relieving symptoms and providing genetic counseling. Diagnosis is based on symptoms and criteria established by researchers. Patients […]
The causes of hypoplastic left heart syndrome (HLHS) are unknown, but may include heredity, gender, other syndromes, and maternal behavior. Structural malformations and underdevelopment of the left side of the heart are thought to be the direct cause. HLHS is more common in boys and may be linked to minor left-sided heart defects and certain […]
Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects collagen production, causing loose joints, stretchy skin, and other symptoms. There are at least three types of EDS, each with its own set of symptoms. Treatment options include physical therapy, surgery, and medication for pain. Patients should protect their skin and joints from injury and […]
Sweet’s syndrome is a condition that causes skin lesions, fever, and lethargy. It can occur on its own or with other illnesses and is most common in women between 30 and 50. It can be caused by unknown factors, inflammatory bowel disease, infections, malignancies, or medication reactions. Treatment involves anti-inflammatory drugs and may be recommended […]
Pacemaker syndrome is a complication of mechanical pacemakers where the heart beats out of sync, causing decreased cardiac output. Symptoms include shortness of breath and fainting. Treatment options include adjusting the pacemaker’s programming or adding a second lead to pace the atria. A cardiologist is needed for accurate diagnosis. Patients should be alert for changes […]
Tarsal tunnel syndrome is similar to carpal tunnel syndrome, but affects the foot. It involves compression of the posterior tibial nerve, causing numbness, pain, and burning sensations. Treatment depends on the cause and can range from rest and ice to surgery. Most people are familiar with carpal tunnel syndrome, which is caused by compression of […]
Sjögren’s syndrome, or sicca syndrome, has no known biological cause, but an imbalanced protein affecting the lymphatic system may be the main culprit. A connection to a particular water channel protein was discovered in 2003, and there is no cure for the disease. It is typically found in women between the ages of 30 and […]
