| MCR | Medical Corps Reserve; melanocortin receptor; message competition ratio; metabolic clearance rate; m... |
|---|---|
| AHC | Albright's Hereditary Osteodystrophy |
| AHO | Albright's Hereditary Osteodystrophy |
| HCP | Hereditary Copro-Porphyria; À¯Àü¼º CoproPorphyria |
| HEMPAS Test | Hereditary Erythrocytic Multinuclearity with Positive Acidified Serum Test |
| AHO | Albright hereditary osteodystrophy |
|---|---|
| CHED | Congenital Hereditary Endothelial Dystrophy |
| HANE | Hereditary Angio Neurotic Edema |
| HAE | Hereditary Angio-Edema |
| HCSMA | Hereditary Canine Spinal Muscular Atrophy |
| myotonia | Increased muscular irritability and contractility with decreased power of relaxation; toxic spasm of muscle. (12 Dec 1998) |
|---|---|
| myotonia acquisita | Acquired myotonia following exposure to certain toxins. (05 Mar 2000) |
| myotonia atrophica | A rare, slowly progressive, hereditary disease transmitted as an autosomal dominant trait and characterised by myotonia followed by atrophy of the muscles, cataracts, hypogonadism, balding, and cardiac abnormalities. (12 Dec 1998) |
| myotonia congenita | A congenital genetic disease characterised by tonic spasm and rigidity of certain muscles when an attempt is made to move them after a period of rest or when mechanically stimulated. The stiffness disappears as the muscles are moved. (12 Dec 1998) |
| myotonia dystrophica | <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting. A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene). Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well. The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene. Inheritance: autosomal dominant. (29 Dec 1997) |
| myotonia neonatorum | Hypocalcaemic tetany occurring in neonates or young infants, due to transient functional hypoparathyroidism in consumption of cow's milk (high phosphorus content). Synonym: myotonia neonatorum, tetania neonatorum, tetanism. (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) |
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