Diseases

Adult onset Still’s disease

Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term "adult Still's disease" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications.

Adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a rare, chronically progressive, metabolic disorder with severe neurological expression. It is caused by the abnormal accumulation of microscopic material (polyglucosan bodies), predominantly within the myelinated nerve fibers (motor neurons). The polyglucosan bodies are spherical and composed of large, complex, sugar-based molecules (branched polysaccharides).

Adult progressive spinal muscular atrophy Aran Duchenne type

Adult progressive spinal muscular atrophy, Aran Duchenne type is a group of inherited motor neuron diseases involving progressive muscle weakness, wasting and paralysis due to degeneration of motor neurons in the spinal cord. Muscle weakness and wasting usually starts in the hands and may gradually spread to other muscle groups.

Adult-onset spinal muscular atrophy

Adult-onset spinal muscular atrophy atrophy ( also known as Spinal muscular atrophy type 4, SMA type 4) is a disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and shrinkage (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected.

Advanced sleep phase syndrome

Advanced sleep phase syndrome is of circadian rhythm sleep disorder. In this disorder a major sleep episode is advanced in relation to the desired clocktime, which results in symptoms of compelling evening sleepiness, an early sleep onset, and an awakening that is earlier than desired.

Aerobic actinomyces infection

Actinomycosis is a chronic suppurative and granulomatous disease of the cervico-facial, thoracic or abdominal areas.

African trypanosomiasis

African trypanosomiasis is also known as sleeping sickness and It is a parasitic disease of humans and other animals. There are two types of African trypanosomiasis, East and West, named for the region of Africa in which they were historically found. People can get the disease if they are bitten by an infected tsetse fly, which is only found in rural areas (Africa). Treatment is available for African trypanosomiasis, but it is fatal if left untreated.

Agammaglobulinemia- non-Bruton type

Agammaglobulinemia, non-Bruton type is a rare form of agammaglobulinemia, which is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune systemto help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea.

Aganglionosis- total intestinal

A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease is differentiated from the other types by the location of the genetic defect

Aggressive Fibromatosis

Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors. It commonly develops in the fibrous (connective) tissue of the body that forms tendons and ligaments, usually in the arms, legs or midsection, and also in the head and neck. These tissues of the body connect, support, and surround other body parts and organs. The myofibroblast is the cell considered to be responsible for the development of desmoid tumor. Regardless of its scientific classification, a desmoid tumor can be invasive to surrounding tissues and difficult to control. Desmoid tumors can develop virtually at any body site. Superficial desmoids tend to be less aggressive than deep desmoids (abdominal, extra abdominal, mesenteric). These tumors look like dense scar tissue and just like scar tissue, they adhere tenaciously to surrounding structures and organs, and, thus they are commonly difficult to remove. These tumors often recur, even after apparently complete removal.

Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.

Aggressive systemic mastocytosis

Systemic mastocytosis, often termed systemic mast cell disease (SMCD), is a clonal disorder of the mast cell and its precursor cells. The clinical symptoms and signs of systemic mastocytosis (systemic mast cell disease) are due to the accumulation of these clonally derived mast cells in different tissues, including bone marrow, skin, the gastrointestinal (GI) tract, the liver, and the spleen

Aglossia and Situs Inversus

A rare birth defect where the location of the internal organs are opposite to where they should be i.e. the heart is on the right side instead of the left. This condition is also characterized by the absence of the tongue.

Agnathia-microstomia-synotia

Agnathia is a rare malformation characterized by the absence of the mandible, microstomia, aplasia or hypoplasia of the tongue, and low-set or medially fused ears. It occurs alone or in combination with a variety of malformations such as holoprosencephaly.

Agnosia

Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected. It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, traumatic brain injury, dementia, a tumor, developmental disorders, overexposure to environmental toxins (e.g., carbon monoxide poisoning), or other neurological conditions. Visual agnosia may also occur in association with other underlying disorders. People with agnosia may retain their cognitive abilities in other areas. Treatment of primary agnosia is symptomatic and supportive; when it is caused by an underlying disorder, treatment of the disorder may reduce symptoms and help prevent further brain damage.

Agyria pachygyria polymicrogyria

Polymicrogyria (PMG) is a developmental malformation of the human brain characterized by an excessive number of small convolutions (gyri) on the surface of the brain. Either the whole surface or parts of the surface can be affected.

Agyria-pachygyria type 1

Agyria-pachygyria type 1 is an abnormal brain development where the brain fails to develop normally during the fetal stage.

Ahumada-Del Castillo syndrome

Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands.

Aicardi syndrome

Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome. Confirmation of this theory awaits the discovery of the gene which causes Aicardi syndrome. Symptoms typically appear before a baby reaches about 5 months of age

Aicardi-Goutieres syndrome

Aicardi–Goutières syndrome, which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder). The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of in utero acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus (SLE). Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi–Goutières syndrome' in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001.

Aicardi-Goutieres syndrome 5

Aicardi-Goutieres syndrome type 5 is a form of Aicardi-Goutieres syndrome, a genetically heterogeneous condition characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serology for prenatal infection—despite clinical features (thrombocytopaenia, hepatosplenomegaly and elevated hepatic transaminases, and intermittent fever) suggesting an infection. Severe neurologic defects present in infancy (e.g., microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), usually leading to death in early childhood.

AIDS Dementia Complex

HIV infection weakens the immune system, making it highly susceptible to numerous infections and certain types of cancers. Although it doesn't appear to infect the nerve cells, it can cause neurological symptoms such as confusion, forgetfulness, depression, anxiety and difficulty walking.

In short, HIV-associated neurocognitive disorders (HAND) are neurological disorders associated with HIV infection and AIDS. HAND may include neurological disorders of various severity such as AIDS dementia complex (ADC) also known as HIV dementia and HIV-associated dementia (HAD), HIV encephalopathy, and Mild Neurocognitive Disorder (MND). HIV-associated neurocognitive disorders are associated with a metabolic encephalopathy induced by HIV infection and fueled by immune activation of macrophages and microglia. These cells are actively infected with HIV and secrete neurotoxins of both host and viral origin.

The ADC is one of the most common and clinically important CNS complications of late HIV-1 infection. It is a source of great morbidity and, when severe, is associated with limited survival. The essential features of ADC are disabling cognitive impairment accompanied by motor dysfunction, speech problems and behavioral change. Cognitive impairment is characterised by mental slowness, trouble with memory and poor concentration. Motor symptoms include a loss of fine motor control leading to clumsiness, poor balance and tremors. Behavioral changes may include apathy, lethargy and diminished emotional responses and spontaneity. Histopathologically, it is identified by the infiltration of monocytes and macrophages into the central nervous system (CNS), gliosis, pallor of myelin sheaths, abnormalities of dendritic processes and neuronal loss.

ADC typically occurs after years of HIV infection and is associated with low CD4+ T cell levels and high plasma viral loads. It is sometimes seen as the first sign of the onset of AIDS. Prevalence is between 10-24% in Western countries[3] and has only been seen in 1-2% of India-based infections. With the advent of highly active antiretroviral therapy (HAART), theincidence of ADC has declined in developed countries, although its prevalence is increasing.  HAART may prevent or delay the onset of ADC in people with HIV infection, and may also improve mental function in people who already have ADC.

Dementia only exists when neurocognitive impairment in the patient is severe enough to interfere markedly with day-to-day function. That is, the patient is typically unable to work and may not be able to take care of him or herself. Before this, the patient is said to have a mild neurocognitive disorder.

AIDS dysmorphic syndrome

It is a  rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage. Such craniofacial abnormalities have included a prominent, boxlike forehead, large, wide eyes; a flattened nasal bridge, and an unusually pronounced philtrum, which is the vertical groove in the center of the upper lip.

Ainhum

Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions. The exact etiology is still unclear.

Akaba Hayasaka syndrome

A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.

Akesson syndrome

A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.

Al Awadi syndrome

A syndrome characterised by limb defects due to hypo- or aplasia of one or more long bones; pelvic defects with hip dislocation, hypoplastic iliac bone and aplastic pubic bones; and variable thoracic deformity, unusual facies and genitourinary anomalies.  The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.