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| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
|---|---|
| ICD | I-cell disease; immune complex disease; implantable cardioverter defibrillator; impulse-control diso... |
| HCM | Hypertrophic Cardio-Myopathy = HCMP |
| LIMM | lethal infantile mitochondrial myopathy |
| MTM | Thayer-Martin, modified [agar]; myotubular myopathy |
| CNM | Centronuclear myopathy |
|---|---|
| MM | Miyoshi myopathy |
| MTM1 | Myotubular myopathy |
| PROMM | Proximal myotonic myopathy |
| IIM | idiopathic inflammatory myopathy |
| bone diseases, endocrine | Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands. (12 Dec 1998) |
|---|---|
| carcinomatous myopathy | <syndrome> A condition characterised by muscle weakness that is similar to the symptoms of myasthenia gravis. For this reason, it has been referred to as myasthenic syndrome. This disorder is caused by an insufficient release of neurotransmitter (acetylcholine) by the nerve cells. Unlike myasthenia gravis, as muscle contractions are continued, strength will increase. The cause of Lambert-Eaton syndrome is unknown, but is usually associated with small cell carcinoma of the lung or an autoimmune illness. (27 Sep 1997) |
| centronuclear myopathy | Slowly progressive generalised muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibres are seen to be located near the centre of a small fibre (the normal position for a 10-week embryo) rather than at the periphery of the fibre; familial incidence. Autosomal dominant recessive and X-linked [310400] forms occur. Synonym: myotubular myopathy. Distal myopathy, myopathy affecting predominantly the distal portions of the limbs; onset is usually after age 40, with weakness and wasting of small muscles of the hands; The infantile form and the Swedish later-onset are autosomal dominant and there is a Japanese late-onset type that is recessive. Minicore-multicore myopathy, an uncommon nonprogressive myopathy with early onset, proximal weakness, and hypotonia. Muscle fibres show focal defects of oxidative and myofibrillar adenosine triphosphatase enzymes with disorganization of myofibril ultrastructure. Mitochondrial myopathy, weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or childhood; on biopsy, giant, bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. The dominant form is due to deletion of mitochondrial DNA and the recessive form is due to a complex deficiency. (05 Mar 2000) |
| rod myopathy | A congenital myofibrillar abnormality in which small threadlike or rod-shaped bodies are scattered through the muscle fibres. It is marked by hypotonia and proximal muscle weakness. It is also called rod myopathy with reference to the threadlike (greek nema, thread) rods or myofibrils (latin fibrilla, a little fibre or threadlike structure). (12 Dec 1998) |
| myopathy | <neurology> Any disease of a muscle. Origin: Gr. Pathos = disease (18 Nov 1997) |
| myotubular myopathy | Slowly progressive generalised muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibres are seen to be located near the centre of a small fibre (the normal position for a 10-week embryo) rather than at the periphery of the fibre; familial incidence. Autosomal dominant recessive and X-linked [310400] forms occur. Synonym: myotubular myopathy. Distal myopathy, myopathy affecting predominantly the distal portions of the limbs; onset is usually after age 40, with weakness and wasting of small muscles of the hands; The infantile form and the Swedish later-onset are autosomal dominant and there is a Japanese late-onset type that is recessive. Minicore-multicore myopathy, an uncommon nonprogressive myopathy with early onset, proximal weakness, and hypotonia. Muscle fibres show focal defects of oxidative and myofibrillar adenosine triphosphatase enzymes with disorganization of myofibril ultrastructure. Mitochondrial myopathy, weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or childhood; on biopsy, giant, bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. The dominant form is due to deletion of mitochondrial DNA and the recessive form is due to a complex deficiency. (05 Mar 2000) |
| nemaline myopathy | A congenital myofibrillar abnormality in which small threadlike or rod-shaped bodies are scattered through the muscle fibres. It is marked by hypotonia and proximal muscle weakness. It is also called rod myopathy with reference to the threadlike (greek nema, thread) rods or myofibrils (latin fibrilla, a little fibre or threadlike structure). (12 Dec 1998) |
| ocular myopathy | A specific type of slowly worsening weakness of the ocular muscles, usually associated with a pigmentary retinopathy. See: Kearns-Sayre syndrome, oculopharyngeal dystrophy. Synonym: ocular myopathy. (05 Mar 2000) |
| thyrotoxic myopathy | Extreme muscular weakness in severe thyrotoxicosis affecting muscles of limbs and trunk as well as those used in speech and swallowing. (05 Mar 2000) |
| multiple endocrine adenomatosis | The presence of functioning tumours in more than one endocrine gland, commonly the pancreatic islets and parathyroid glands, which may be associated with Zollinger-Ellison syndrome; dominant inheritance. Synonym: multiple endocrine adenomatosis. (05 Mar 2000) |
| multiple endocrine deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| multiple endocrine neoplasia | (type I) This is a hereditary disorder in which two or more of the following glands: parathyroid, pancreas, pituitary, adrenals or thyroid develop hyperplasia or a tumour. (type II) This is a hereditary disorder in which two or more of the following glands: thyroid, adrenal or parathyroid, develop overgrowth (hyperplasia) or malignant cells (cancer). The underlying cause is genetic and a positive family history for this illness is a risk factor. Incidence: approximately 3 in 100,000 people in the general population. Origin: Gr. Plassein = to form (27 Sep 1997) |
| multiple endocrine neoplasia 1 | <radiology> Multiple endrocrine neoplasia syndrome three P's. Pituitary adenoma, 65% can develop Cushing's, acromegaly, prolactinoma, parathyroid hyperplasia / adenoma, 88% can develop hyper-PTH pancreatic isleT-cell tumour, gastrinoma (Z-E) most common, 50% of Z-E can develop MEN-1, inconstant features: bronchial/intestinal carcinoid, thyroid adenoma, adrenal cortical tumour, lipoma, thymoma tissue expression Primary hyperparathyroidism (90%), Gastrinoma (30%), Prolactinoma (15%), Other (10%). Synonym: Wermer syndrome (12 Dec 1998) |
| multiple endocrine neoplasia 2 | <radiology> Multiple endocrine neoplasia syndrome, medullary thyroid carcinoma, usually multifocal; metastasis to local nodes, lung, liver, usually calcify in liver, pheochromocytoma, almost always bilateral, parathyroid hyperplasia, may be secondary to calcitonin secreted by medullary thyroid carcinoma inconstant feature: adrenal cortical hyperplasia Synonym: Sipple syndrome (12 Dec 1998) |
| multiple endocrine neoplasia 3 | <radiology> Multiple endocrine neoplasia syndrome (type 2B, type 3), medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus (Cf: Marfan syndrome), mucosal neuromas, neurofibromas, ganglioneuromatosis coli More info: MEN syndrome 2B Synonym: Schimke, marfanoid syndrome (12 Dec 1998) |
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