Diseases

Arthrogryposis spinal muscular atrophy

A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.

Arts syndrome

Arts syndrome (ARTS) is a disorder that causes serious neurological problems and immune system problems in males. in males. Females can also be affected by this condition, but they typically have much milder symptoms.

Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).

Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.

In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.

Asthenia

Asthenia is a medical term denoting symptoms of physical weakness and loss of strength. it is a condition in which the body lacks or has lost strength either as a whole or in any of its parts. General asthenia occurs in many chronic wasting diseases, such as anemia and cancer, and is probably most marked in diseases of the adrenal gland. Asthenia may be limited to certain organs or systems of organs, as in asthenopia, characterized by ready fatiguability. The condition is also commonly seen in patients suffering from chronic fatigue syndrome, sleep disorders or chronic disorders of the heart, lungs or kidneys.

Differentiating psychogenic (perceived) asthenia and true asthenia from myasthenia is often difficult, and in time apparent psychogenic asthenia accompanying many chronic disorders is seen to progress into a primary weakness.

Astley-Kendall syndrome

A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.

Astrocytoma

Astrocytomas are primary central nervous system tumors that arise primarily in and rarely spread away from the CNS parenchyma contained within the cranial vault. Astrocytomas "are CNS neoplasms in which the predominant cell type is derived from an immortalized[1] astrocyte and account for roughly 75% of neuroepithelial tumors.

Asymmetric septal hypertrophy

Asymmetric septal hypertrophy also called Familial hypertrophic cardiomyopathy is an inherited heart condition by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

Ataxia telangiectasia variant V1

Ataxia telangiectasia variant V1 is a very rare syndrome presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. Also, it is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.

Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E. Vitamin E is an antioxidant that protects cells in the body from the damaging effects of unstable molecules called free radicals. Lack of vitamin E causes neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.

Ataxia-Telangiectasia

Ataxia-telangiectasia (AT) is a rare, neurodegenerative, inherited disease which affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. 

Atelosteogenesis type 2

Atelosteogenesis type 2 (AO2, AO II) is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). However those that that survive birth die soon after from respiratory failure.

Atelosteogenesis- type 1

Atelosteogenesis type 1 (AO I) is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.

Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.

Athabaskan brainstem dysgenesis

Athabaskan brainstem dysgenesis syndrome (ABDS) is a very rare syndrome described in about 13 Athabaskan Native Americans. A rare neurological disorder caused by abnormal brainstem development and function.

It is possible that ABDS may be not be all that rare among Athabaskan Native Americans. Therefore, it has been suggested that all Athabaskan Native American children presenting with horizontal gaze palsies and hearing problems be evaluated for this condition.

Athetosis

Athetosis is a continuous stream of slow, sinuous, writhing movements, typically of the hands and feet and in some cases, arms, legs, neck and tongue. Movements typical to athetosis are sometimes called athetoid movements. It is said to be caused by damage to the corpus striatum of the brain, and can particularly to the corpus striatum.

Atkin syndrome

A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.

Atransferrinemia

Atransferrinemia (inherited condition) is an autosomal recessive metabolic disorder in which there is an absence oftransferrin, a plasma protein that transports iron through the blood, which results in a buildup of iron in the body's tissues as well as anemia.

Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia is extremely rare, with only eight cases documented worldwide.

Atresia of small intestine

It is a rare genetic disorder and defects of the small intestine include both atresia and stenosis. Atresia involves closure or disconnection of a portion or multiple portions of the small intestine while stenosis is a narrowing, webbing, or incomplete closure of a portion of the small intestine. Patients with this disorder are born with a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen  (the mesentery). As a result, one of the three portions of the small intestine (the jejunal) twists around one of the arteries of the colon called the marginal artery and causes a blockage (atresia). It is sometimes compared to an apple peel in appearance.

Atrial fibrillation- familial 1

Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). The condition may go unnoticed or may cause stroke or sudden death in some cases.

Atrial myxoma- familial

An atrial myxoma is a benign tumor of the heart, most commonly found within the left and then the right atria on the interatrial septum. It grows on the wall (atrial septum) that separates the two sides of the heart.

Atrial septal defect

Atrial septal defects (ASDs) are a group of rare disorders of the heart that are present at birth (congenital) and involve a hole in the wall (septum) that separates the two upper-chambers (atria) of the heart. Small atrial septal defects may close on their own during infancy or early childhood.

Normally the heart has four chambers: two upper chambers known as atria that are separated from each other by a fibrous partition known as the atrial septum and two lower chambers known as ventricles that are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. A small opening between the two atria (foramen ovale) is present at birth. Shortly after birth, the atrial septum gradually grows and seals this opening. In infants with atrial septal defects, the atrial septum may not close properly or may be malformed during fetal development. In these disorders, the opening (called patent foramen ovale) between the atria persists long after it should be closed, resulting in an increase in the workload on the right side of the heart and excessive blood flow to the lungs.

Initially, the symptoms associated with atrial septal defects may be absent or so mild that they may go unnoticed. Frequently this disorder is not recognized until school age or even adulthood. In adults with undetected atrial septal defects, various respiratory problems and/or heart failure may develop. An adult who has had an undetected atrial septal defect for decades may have a shortened life span from heart failure or high blood pressure that affects the arteries in the lungs (pulmonary hypertension). Surgery may be necessary to repair atrial septal defects to prevent complications.

Several forms of atrial septal defects are recognized. They are classified according to their location in the septum. The term primum refers to defects that are in the lower part of the septum. The term secundum refers to defects that are located in the middle of the septum, and the term sinus venosus refers to defects in the upper part of the septum.

Subdivisions of Atrial Septal Defects:

  • Ostium Primum Defect (endocardial cushion defects included)
  • Ostium Secundum Defect
  • Sinus Venosus
  • Coronary sinus

Ostium Primum Defect:

Ostium primum atrial septal defect is less common. The lower part of the atrial septum fails to develop normally, leaving an opening between the atria. Frequently, the valves that separate the atria from their respective ventricles (tricuspid and mitral) are also malformed, and the septum that divides the ventricles may also be deficient or malformed (atrioventricular septal defect). Another defect may have occurred during embryonic development in the tissue that forms the septum that divides the heart into atria and ventricles (endocardial cushion defect).

Ostium Secundum Defect:

Ostium secundum atrial septal defect is the most common form of this group of heart defects. The middle portion of the atrial septum in the region of the foramen ovale fails to close during fetal development. The size of the opening may vary, along with the severity of the symptoms.

Sinus Venosus:

Sinus venosus, the least common form of atrial septal defect, occurs when there is an opening on the upper portion of the atrial septum. This defect is often associated with malformations of the vein that leads from the lungs into the heart (right pulmonary vein). One of the major veins of the body that returns blood to the heart (superior vena cava) may also be malformed.

Coronary sinus:

In this rare defect, part of the wall between the coronary sinus — which is part of the vein system of the heart — and the left atrium is missing.

Atrioventricular septal defect

Atrioventricular canal defect is a combination of heart problems resulting in a defect in the center of the heart. The condition occurs when there's a hole between the heart's chambers and problems with the valves that regulate blood flow in the heart. The condition is often associated with Down syndrome.

Atrioventricular canal defect allows extra blood to flow to the lungs. The extra blood forces the heart to overwork, causing the heart muscle to enlarge.

Untreated, atrioventricular canal defect can cause heart failure and high blood pressure in the lungs. Doctors generally recommend surgery during the first year of life to close the hole in the heart and to reconstruct the valves

Atrophoderma of Pierini and Pasini

Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. It is a progressive skin disease characterized by violet or brown skin lesions of varying sizes. The disease results in round or oval patches of hyper-pigmented skin. The darkened skin patches may sometimes have a bluish or purplish hue when they first appear and are often smooth to the touch and hairless. It is characterized by large lesions with a sharp peripheral border dropping into a depression with no outpouching, which, on biopsy, elastin is normal, while collagen may be thickened.