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Otosclerosis

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...
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Primary Myelofibrosis

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...
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Chandipura Virus Infection

Chandipura Virus Infection Overview In the realm of emerging infectious diseases, the Chandipura Virus has recently captured the attention of global health experts and the public alike.  Named after the town of Chandipura in Maharashtra where it was first identified in 1965, this virus presents a new challenge in the landscape of viral infections. In Gujarat's Aravalli district, six children are suspected to have died from the Chandipura virus in the past five days. The number of suspected cases has now increased to 12. Symptoms he symptoms of the Chandipura virus infection range from mild respiratory distress to more severe complications. Common initial symptoms include: Fever Headaches Fatigue Body and muscle aches Vomiting Convulsions As the infection progresses, some individuals may experience respiratory symptoms like cough and shortness of breath; in certain severe cases, pneumonia and acute respiratory distress syndrome (ARDS) and encephalitis have been reported. Cause The C...
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Glycogen Storage Disease Type III

Glycogen Storage Disease Type III Overview The human diet contains 3 macronutrients that can be stored by the body as energy: carbohydrates (as the natural carbohydrate polymer glycogen, in mainly the liver and muscle), protein (as muscle, the natural protein source of the body) and fat (in organs and fat tissue). There are at least 13 glycogen storage disease (GSD) subtypes, in which the energy stored as glycogen cannot be adequately produced or broken down. The liver GSD subtypes cause fasting intolerance (types 0, Ia, Ib, III, VI, IX and XI) or liver failure (type IV), with or without muscle symptoms. The fasting induced low blood glucose concentrations decrease the energy supply by the liver to organs like the brain. The ketotic GSD subtypes 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia. In these patients, the breakdown of glycogen (glycogenolysis) is defective. Their fasting intolerance is considered relatively mild compared to GSD type I patients, in who...
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Andermann syndrome

Andermann syndrome Overview    Andermann syndrome, also known as ACCPN, is a rare, severe neurodegenerative genetic disorder. It primarily features the underdevelopment or absence of the tissue connecting the two halves of the brain (corpus callosum), along with progressive muscle weakness and intellectual disability. Symptoms A Neurological Complications Progressive Neuropathy : Early muscle weakness (hypotonia) transitions into progressive motor deterioration, causing severe muscle wasting (amyotrophy) and flaccid tetraplegia. Affected individuals usually lose the ability to walk and become wheelchair-bound by adolescence. Cranial Nerve Defects: Damage to cranial nerves can cause facial muscle weakness, drooping eyelids (ptosis), and gaze palsy (difficulty moving the eyes in certain directions). Seizures: Epilepsy and abnormal electrical activity in the brain occur in many patients.Sensory Loss: Patients suffer from absent or severely diminished sensory responses (areflexia...
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Arginine: Glycine Amidinotransferase Deficiency

Arginine: Glycine Amidinotransferase Deficiency Overview Arginine: glycine amidinotransferase deficiency (AGAT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of creatine metabolism which interrupt the formation or transport of creatine. Creatine is necessary to use properly adenosine triphosphate (ATP), which provides energy to all cells in the body. Symptoms The severity of AGAT varies from patient to patient. People with AGAT typically present with mild to moderate intellectual disabilities, delayed speech and may have seizure activity. Some individuals may develop autistic like behaviors. Children with AGAT may not gain weight and grow at the expected rate (failure to thrive) and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily. Causes AGAT is the first step of creatine production, resulting in the formation of guanidinoacetate, the...
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Aspartylglucosaminuria

Aspartylglucosaminuria Overview Aspartylglucosaminuria (AGU) is a rare genetic disorder that affects the body’s ability to break down certain sugars due to a deficiency of the enzyme glycosylasparaginase. Without this enzyme, sugars build up in the body which can cause various health issues, especially affecting brain function. The signs and symptoms of AGU usually become noticeable in childhood and progress over time. Babies appear normal at birth but during childhood (ages 0 to 12) they may learn slowly, have mild intellectual disabilities, be taller and have a larger head compared to their peers. During puberty and early adolescence (ages 13 to 25), learning difficulties become more severe and some skills may decline. Many adults with this condition have severe intellectual disabilities and may need help with daily tasks, often becoming quieter and, in some people, aggressive if disturbed. Typically, adults with AGU also have shorter stature and smaller heads. Aspartylglucosaminuria...
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