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| EA | 1) Esophageal Atresia Types 1. Esophageal Atresia with Dis... |
|---|---|
| HCM | Hypertrophic Cardio-Myopathy = HCMP |
| LIMM | lethal infantile mitochondrial myopathy |
| MD | Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major... |
| MDPK | myotonic dystrophy protein kinase |
| PROMM | Proximal myotonic myopathy |
|---|---|
| CNM | Centronuclear myopathy |
| CMD | Congenital myotonic dystrophy |
| MM | Miyoshi myopathy |
| MD | Myotonic Dystrophy |
| myotonic | Pertaining to or exhibiting myotonia. (05 Mar 2000) |
|---|---|
| myotonic cataract | Cataract occurring in myotonic dystrophy. (05 Mar 2000) |
| myotonic dystrophy | <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) |
| dystrophy, myotonic | Inherited disease with myotonia (irritability and prolonged contraction of muscles), mask-like face, premature balding, cataracts, and cardiac disease. Due to a trinucleotide repeat (a stuttering sequence of three bases) in the DNA. (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) |
| vagotomy, proximal gastric | Vagal denervation of that part of the stomach lined with acid secreting mucosa. Since the procedure leaves the vagal branches to the antrum and pylorus intact, it circumvents gastric drainage required with truncal vagotomy techniques. (12 Dec 1998) |
| point of proximal contact | That part of the proximal surface of a tooth which touches the adjacent tooth mesially or distally. Synonym: contact point, point of proximal contact. (05 Mar 2000) |
| proximal | <anatomy> Nearest to, closer to any point of reference, opposed to distal. (18 Nov 1997) |
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