| A-T | ataxia telangiectasia |
|---|---|
| CLA | cerebellar ataxia; Certified Laboratory Assistant; cervicolinguoaxial; contralateral local anesthesi... |
| COACH | cerebellar vermis hypoplasia/aplasia-oligophrenia-congenital ataxia-ocular colobomata-hepatic fibros... |
| EAM | episodic ataxia with myokymia; external acoustic meatus |
| EOCA | early onset cerebellar ataxia |
| Friedreich's ataxia | <neurology> An autosomal recessive inherited disorder that leads to the progressive dysfunction of the cerebellum, spinal cord and peripheral nerves. Symptoms usually begin in childhood before puberty and consist of an unsteady gait (ataxia), slurred speech (dysarthria) and jerky eye movements (nystagmus). Other findings include kyphoscoliosis, hammer toe, heart disease and high arches. Congestive heart failure is a common complication. There is no known treatment and prognosis is poor. Inheritance: autosomal recessive. (07 Apr 1998) |
|---|---|
| Leyden's ataxia | A syndrome having the characteristics of tabetic neurosyphilis but not due to syphilis. Synonym: Leyden's ataxia, peripheral tabes, pseudoataxia. (05 Mar 2000) |
| locomotor ataxia | The severe gait ataxia seen with tabetic neurosyphylis. Patients walk with the feet wide apart, slapping them clumsily to the floor with each step, and depend on visual cues to maintain balance. See: tabetic neurosyphilis. (05 Mar 2000) |
| Albright's hereditary osteodystrophy | An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms. See: pseudohypoparathyroidism. Synonym: Albright's syndrome. (05 Mar 2000) |
| angioedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| angioneurotic oedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| canine hereditary blindness | An autosomal dominant condition seen in dogs of the collie and several other breeds. (05 Mar 2000) |
| colourectal neoplasms, hereditary nonpolyposis | A syndrome characterised by autosomal dominant inheritance, a low mean age (41 years) for occurrence of colon cancer, and a marked increase in the proportion of tumours in the proximal colon. (12 Dec 1998) |
| corneal dystrophies, hereditary | Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. (12 Dec 1998) |
| hereditary | <genetics> Transferred via genes from parent to child. (16 Dec 1997) |
| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
| hereditary angioedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| hereditary angioneurotic oedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| hereditary angio oedema | <biochemistry> Condition in which there seems to be uncontrolled production of C2 kinin because of a deficiency in C1 inhibitor levels. (18 Nov 1997) |
| hereditary areflexic dystasia | A rare autosomal dominant neurological disorder with many of the clinical features of hereditary hypertrophic sensorimotor polyneuropathy combined with an essential tremor. Synonym: hereditary areflexic dystasia. (05 Mar 2000) |