| EDMD | Emery-Dreifuss muscular dystrophy |
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| EMD | electromechanical dissociation; emergency medical dispacher; emergency medical doctor; Emery-Dreifus... |
| FCMD | Fukuyama congenital muscular dystrophy |
| FSHSMA | facioscapulohumeral spinal muscular atrophy |
| HMSAS | hypertrophic muscular subaortic stenosis |
| scapulohumeral muscular dystrophy | One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance. Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy. (05 Mar 2000) |
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| pseudohypertrophic muscular dystrophy | The most common childhood muscular dystrophy, with onset usually before age 6. Characterised by symmetrical weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). Synonym: childhood muscular dystrophy, Duchenne's disease, pseudohypertrophic muscular dystrophy. (05 Mar 2000) |
| Hoffmann's 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) |
| smooth muscular sphincter | A sphincter of smooth musculature. Synonym: smooth muscular sphincter. Origin: G. Lissos, smooth, + sphincter (05 Mar 2000) |
| spinal muscular atrophy | <radiology> 2nd most common autosomal recessive disease in Caucasians, pathology, degeneration of the spinal anterior horn cells, atrophy and wasting of skeletal muscles, types, SMA I = Werdnig-Hoffman disease: rapidly progressive, SMA II = intermediate form, SMA III = Kugelberg-Welander disease: slowly progressive, uncommon adult forms, usual presentations, floppy baby, arthrogryposis, muscle weakness in infancy, diagnosis, weakness and wasting with areflexia, electrophysiology shows anterior horm cell disease, genetics, linked to chromosome 5q., neuronal apoptosis inhibitory protein (NAIP) gene, survival motor neuron (SMN) gene (12 Dec 1998) |
| striated muscular sphincter | A sphincter made up of striated musculature. Synonym: striated muscular sphincter. Origin: rhabdo-+ G. Sphinkter, sphincter (05 Mar 2000) |
| Duchenne muscular dystrophy | A specific form of muscular dystrophy that is inherited as a sex-linked recessive trait and thus confined to young males and to females with Turner's syndrome. One third of all cases are estimated to be new mutational events. See: dystrophin. It is characterised by degeneration and necrosis of skeletal muscle fibres, that are replaced by fat and fibrous tissue. Symptoms include muscle weakness and in some forms, the appearance of muscle enlargement (pseudo-hypertrophy). Advanced cases can include weakness of the respiratory muscles (compromising breathing) and cardiomyopathy. Inheritance: sex-linked recessive. Incidence: 1 in 4000 male births. (11 Nov 1997) |
| idiopathic muscular atrophy | A form of progressive muscular atrophy in which the disease begins in the muscle and not in the spinal centres. Synonym: Erb atrophy, idiopathic muscular atrophy. (05 Mar 2000) |
| infantile 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) |
| infantile progressive 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) |
| 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) |
| ischemic muscular atrophy | See: Volkmann's contracture. (05 Mar 2000) |
| electro-muscular | <physiology> Pertaining the reaction (contraction) of the muscles under electricity, or their sensibility to it. Source: Websters Dictionary (01 Mar 1998) |
| Emery-Dreifuss muscular dystrophy | A generally benign type of muscular dystrophy, with onset in childhood or early adulthood. Weakness begins with the pectoral girdle and proximal upper extremity muscles and spreads to the pelvic girdle and distal lower extremity muscles. Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common. An X-linked inherited disorder, nonallelic to Duchenne's muscular dystrophy. (05 Mar 2000) |
| juvenile muscular atrophy | Slowly progressive proximal muscular weakness and wasting, beginning in childhood, caused by degeneration of motor neurons in the anterior horns of the spinal cord; onset usually between 2 and 17 years of age; usually autosomal recessive inheritance. Synonym: juvenile muscular atrophy, Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander disease. (05 Mar 2000) |