| 영문 | muscular dystrophy | 한글 | 근육퇴행위축 |
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| 설명 | 근섬유의 파괴로 인한 점진적인 근위축과 허약을 특징으로 하는 일련의 선천적인 질환군을 통털어 말한다. 대표적인 경우가 뒤쉔(Duchenne)형으로 성염색체 열성유전을 하며, 대개 4 세이내에 발병해 청년기를 넘기는 경우가 드물다. 특징적 소견으로 장딴지근(gastronemius)의 거짓비대(pseudohypertrophy)(실제적으로는 근위축이 일어나지만, 근섬유 대신에 지방세포가 들어차 도리어 마치 근육이 증가한 것처럼 보이는 현상) 소견을 볼 수 있다. |
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| INAD | infantile neuroaxonal dystrophy |
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| PMD | Progressive Muscular Dystrophy; 진행성 근이영양증 Types of PMD(Progressive Muscular Dystroph... |
| CMD | campomelic dysplasia; camptomelic dwarfism; cartilage matrix deficiency; chief medical director; chi... |
| LCD | coal tar solution [liquor carbonis detergens]; lattice corneal dystrophy; liquid crystal diode; loca... |
| MD | Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major... |
| INAD | Infantile neuroaxonal dystrophy |
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| NAD | Neuroaxonal dystrophy |
| EIEE | Early infantile epileptic encephalopathy |
| IHPS | Infantile Hypertrophic Pyloric Stenosis |
| IM | Infantile Myofibromatosis |
| infantile neuroaxonal dystrophy | <neurology, paediatrics> A rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia and progressive blindness. Pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nervous system nuclei. (05 Mar 2000) |
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| neuroaxonal dystrophy | A rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterised initially by walking difficulties, weakness, and areflexia, later followed by corticospinal and pseudobulbar findings, blindness, loss of pain appreciation, and mental deterioration; pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nuclei; autosomal recessive inheritance. (05 Mar 2000) |
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| neuroaxonal dystrophies | Encephalopathies characterised by swelling in distal portions of axons (speroids) often with axonal degeneration. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy (seitelberger's disease) is an autosomal recessive trait characterised by arrested psychomotor development at 6 months to 2 years followed by ataxia, brainstem signs, optic atrophy, and quadriparesis. Hallervorden-spatz syndrome, which usually first appears at 7 to 12 years of age, may be genetically related to the infantile syndrome. (12 Dec 1998) |
| aggressive infantile fibromatosis | A childhood counterpart of abdominal or extra-abdominal desmoid tumours, characterised by firm subcutaneous nodules that grow rapidly in any part of the body that invade locally and recur but do not metastasize. (05 Mar 2000) |
| autism, infantile | A syndrome beginning in infancy and characterised by a lack of responsiveness to other people, gross impairment in verbal and nonverbal communication skills, and bizarre responses to the environment. (12 Dec 1998) |
| progressive infantile spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| spasms, infantile | Primary generalised epileptic seizures occurring in infants between birth and twelve months of age consisting of brief synchronous contractions of the neck, torso, and both arms. These seizures often occur in infants with underlying neurologic diseases. The prognosis for these infants is grave, with approximately ninety percent developing mental retardation in addition to their seizures. The eeg has a typical hypsarrhythmia pattern. The spasms and hypsarrhythmia have a tendency to disappear over the first three to five years of life, only to be replaced by other forms of generalised seizures. Infantile spasms sometimes respond to valproic acid or acth. (12 Dec 1998) |
| supravalvar aortic stenosis-infantile hypercalcaemia syndrome | <syndrome> Supravalvar aortic stenosis associated with elfin facies, mental retardation, and hypercalcaemia; usually sporadic; perhaps an irregular dominant trait. (05 Mar 2000) |
| diffuse infantile familial sclerosis | <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia Synonym: Krabbe leukodystrophy (12 Dec 1998) |
| infantile | Pertaining to an infant or to infancy. Origin: L. Infantilis (18 Nov 1997) |
| infantile acute haemorrhagic oedema of the skin | A generally benign form of cutaneous vasculitis, characterised by ecchymotic purpura, often in a cockade pattern, and inflammatory oedema in infants. (05 Mar 2000) |
| infantile autism | A severe emotional disturbance of childhood characterised by qualitative impairment in reciprocal social interaction and in communication, language, and social development. Synonym: autistic disorder, childhood schizophrenia, early infantile autism, Kanner's syndrome. (05 Mar 2000) |
| infantile beriberi | Beriberi appearing in a breast-fed infants whose mother has beriberi due to thiamin deficiency. It is mainly the "wet" form of beriberi, characterised by heart failure with marked peripheral oedema (which is otherwise unusual in heart failure in infancy). An often fatal disease, acute in onset, which was formerly common in the Far Eastern countries where rice is consumed; reversible with thiamin. (05 Mar 2000) |
| infantile brain tumours | <radiology> Can be present at birth: choroid plexus papilloma, medulloblastoma, craniopharyngioma, ependymoma, astrocytoma, teratoma (12 Dec 1998) |
| infantile cataract | A cataract affecting a very young child. (05 Mar 2000) |
| infantile coeliac disease | Gluten-sensitive enteropathy appearing in infancy, often before the age of 9 months and characterised by acute onset, diarrhoea, abdominal pain, and "failure to thrive." (05 Mar 2000) |
| infantile neuroaxonal dystrophy |
progressive hereditary degenerative encephalopathy transmitted as an autosomal recessive trait, beginning in infancy with muscular hypotonia and arrest of development in late infancy, followed by dementia, blindness, spasticity, and ataxia. Pathologically it is characterized by widespread focal swellings and degeneration of the axons with scattered spheroids in the brain. In some, but not all, cases it is caused by a deficiency of a-N-acetylgalactosaminidase. Called also Seitelberger's disease.
출처: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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