| HCM | Hypertrophic Cardio-Myopathy = HCMP |
|---|---|
| LIMM | lethal infantile mitochondrial myopathy |
| MTM | Thayer-Martin, modified [agar]; myotubular myopathy |
| MTMX | myotubular myopathy, X-linked |
| XLMTM | X-linked myotubular myopathy |
| CNM | Centronuclear myopathy |
|---|---|
| MM | Miyoshi myopathy |
| MTM1 | Myotubular myopathy |
| PROMM | Proximal myotonic myopathy |
| IIM | idiopathic inflammatory myopathy |
ocular
| 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) |
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| 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) |
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| 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) |
| 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) |
| accommodation, ocular | The dioptric adjustment of the eye (to attain maximal sharpness of retinal imagery for an object of regard) referring to the ability, to the mechanism, or to the process. It is the effecting of refractive changes by changes in the shape of the crystalline lens. Loosely, it refers to ocular adjustments for vision at various distances. (12 Dec 1998) |
| adaptation, ocular | The adjustment of the eye to variations in the intensity of light. Light adaptation is the adjustment of the eye when the light threshold is increased; dark adaptation when the light is greatly reduced. (12 Dec 1998) |
| albinism, ocular | Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is x-linked (nettleship-falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. (12 Dec 1998) |
| anterior ocular segment | That portion of the eye comprising the cornea, iris, lens, and their associated chambers and adnexa. (05 Mar 2000) |
| cardinal ocular movements | Eye rotations to the right and left, upward to the right and left, and downward to the right and left, to diagnose positions of gaze. (05 Mar 2000) |
| Ramsden's ocular | An eyepiece of a microscope, consisting of two planoconvex lenses with convexities turned to each other. (05 Mar 2000) |
| vestibular ocular reflex | <clinical sign> Reflex movement of the eyes in the opposite direction to that which the head is moved, e.g., the eyes being lowered as the head is raised, and the reverse (Cantelli's sign); an indication of functional integrity of the brainstem tegmental pathways and cranial nerves involved in eye movement. Synonym: vestibular ocular reflex. (05 Mar 2000) |
| reflex, vestibulo-ocular | A reflex wherein impulses are conveyed from the cupulas of the saemicircular canals and from the otolithic membrane of the saccule and utricle via the vestibular nuclei of the brainstem and the median longitudinal fasciculus to the oculomotor nerve nuclei. It functions to maintain a stable retinal image during head rotation by generating appropriate compensatory eye movements. (12 Dec 1998) |
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