Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In senile ptosis and late-acquired hereditary ptosis, the Fasanella-Servat procedure is dependable and successful. However, levator resection by the posterior approach is appropriate for the more severe problems. In senile ptosis, a search should be made for signs that might prompt disinsertion repair. The decision for surgery in patients with chronic progressive external ophthalmoplegia or myotonic dystrophy should be made cautiously, and the "optical tarsectomy" should be considerable before conservative levator resection or fascia lata suspension. The patient with myasthenia gravis should be identified, medical evaluation initiated, and except in rare instances, surgery avoided. The more unusual forms of myogenic ptosis should be treated surgically only when the ptosis persists and has stabilized.
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PMID:Management of myogenic (myopathic) ptosis. 124 46

To determine diagnostic value of lens opacities in myotonic dystrophy (DM), we examined 98 at-risk members of 9 DM kindreds. Haplotype analysis of restriction fragment length polymorphisms (RFLPs) using ApoC2, CKMM, and pEFD4.2 supported the diagnosis of DM in 33 and excluded the diagnosis in 51 members. The sensitivities of bilateral iridescent lens opacities, posterior cortical lens opacities, orbicularis oculi weakness, low intraocular pressure, ptosis, and ocular myotonia were 46.7, 50.0, 60.6, 59.3, 51.5, and 3.0%, while their specificities were 100.0, 100.0, 98.0, 94.1, 96.1, and 100.0%, respectively. A peripheral pigmentary degeneration and central macular lesions of retina were not found on indirect fundoscopy. In 86.2% of DM patients, bilateral iridescent lens opacities, posterior cortical lens opacities, or both were present. Unilateral iridescent lens opacities occurred in only 3 of our DM patients, and 2 of non-DM relatives showed a few unilateral iridescent particles. Posterior cortical lens opacities in DM patients always affected both eyes in this series. We conclude that 1) bilateral iridescent lens opacities and posterior cortical lens opacities are highly specific for DM and useful for establishing clinical diagnosis of DM, 2) unilateral iridescent lens opacities are infrequent in DM and are seen in some non-DM members, and 3) ocular myotonia and clinical retinopathies are rare in DM.
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PMID:Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms. 136 51

Mitral valve prolapse (MVP), the most frequently encountered valvular condition in the population, has been reported in an increasing variety of neurologic, muscular, and psychiatric disorders during the last twelve years. Extensive review of reports indicates this has resulted from observations of either (1) inordinate incidence of MVP in well-defined neurologic entities or (2) development of neurologic or ophthalmologic complications attributed to MVP. In the review presented, basis is found for categorizing MVP by its association with (1) well-defined, genetically determined neurologic disorders; (2) disorders characterized by structural abnormalities, many genetically determined, or inflammatory processes of connective tissues; (3) "mechanical" prolapse resulting from disproportion of mitral valve annulus and left ventricular size, which is, at times, reversible; and (4) a generally asymptomatic state that, at times, is associated with ischemic, thrombotic, embolic, and infectious disorders of the brain and eye. The paradox between the large number of persons with MVP in the general population who remain healthy and a subpopulation of patients with complications of MVP (eg, stroke) or other entities has been identified. A second paradox is found between the well-known increased incidence of MVP, especially in young patients with stroke, and the apparent rarity of stroke among patients with both common (eg, migraine) and unusual (eg, myotonic dystrophy) neurologic entities in which an extraordinary high prevalence of MVP is known to exist.
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PMID:Neurologic aspects of mitral valve prolapse. 266 5

We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophthalmoparesis. The acetylcholine receptor antibodies were elevated, and there was a dramatic response to edrophonium confirming the clinical impression of myasthenia gravis. Spontaneous remission of the ptosis was noted after six months with no specific treatment. Many other family members were examined; none of them had clinical or laboratory evidence of myasthenia gravis. The clinical examination of the mother and the maternal grandmother, neither of whom had any complaints, resulted in a definite diagnosis of myotonic dystrophy. The proband's father and a 3-year-old sister were examined and found to be normal. We studied the HLA antigens of all of the available family members; none were found to have the HLA antigens most commonly associated with myasthenia gravis. Secretor gene studies were not helpful in providing additional genetic identification. The question generated by the coexistence of these two uncommon disorders in one family is if there is a genetic or other relationship between them or if this was merely a coincidental occurrence. At this point in time the question remains unanswered and must await demonstration of additional similar circumstances.
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PMID:The coexistence of myasthenia gravis and myotonic dystrophy in one family. 356 10

Weakness of the external eye muscles was believed to be of genetic origin in 94 of 97 patients studied and was familial in 73 patients. Thirty patients had congenital ptosis alone or with weakness of other ocular muscles. The lack of progression and high incidence of other congenital anomalies suggested that congenital ptosis had in most instances a development etiology. Neurogenic congenital ptosis was documented in one instance and was suspected in another patient. The most common causes of progressive ophthalmaplegia with onset after birth was myotonic dystrophy and ocular muscle dystrophy. On clinical and genetic grounds, ptosis associated with retinitis pigmentosa was considered as a distinct disease and there was no conclusive evidence that ocular muscle dystrophy and oculopharyneal dystrophy were separate diseases. The relatively high incidence of familial myasthenia gravis was probably due to the selection of the patients. Two pairs of sibs with "chondrodystrophic myotonia" were included in the study. Progressive external ophthalmoplegia with onset after birth was neurogenic in three instanced. It accompanied motor neuron disease, Kugelberg-Welander disease and an undertermined disease affecting the central and peripheral nervous system, each in one patient.
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PMID:Hereditary ptosis. 517 28

Myotonia atrophica, a neuromuscular disease marked by autosomal dominant transmission and delayed relaxation of skeletal muscle, has been associated with cardiac failure, conduction abnormality and mitral prolapse (MVP). In order to determine the relaxation rate of cardiac muscle, left ventricular (LV) size and function, and the presence of MVP, 30 patients with myotonia atrophica were studied using digitized M-mode echocardiography (MME). Intracardiac conduction intervals were determined by noninvasive His bundle recording (HBR) from surface electrodes using a high-resolution, R-wave triggered, signal averaging computer. Neurologically unaffected first-degree relatives of the patients with myotonia atrophica were also studied to determine if cardiac abnormalities may be present in the absence of neurologic manifestations of the disease. Peak normalized diastolic endocardial velocity in patients with myotonia atrophica (3.7 +/- 0.8 sec-1) did not differ from unaffected first-degree relatives (3.8 +/- 0.8 sec-1) or normal subjects (3.6 +/- 0.8 sec-1). Systolic LV function and LV dimensions on MME were normal in both groups. However, MVP was present in 7 of 24 (29%) of patients who could be evaluated, but not in unaffected first-degree relatives. Despite normal LV systolic and diastolic function, infranodal intracardiac conduction was prolonged in patients with myotonia atrophica (average HV interval 50 +/- 5 SD msec) but not in neurologically unaffected relatives (average HV interval 40 +/- 5 msec). Delay in proximal intracardiac conduction was also found in patients with myotonia atrophica (average PH interval 140 +/- 20 msec) but not in neurologically unaffected relatives (average PH interval 115 +/- 6 msec). Hence cardiac findings in myotonia atrophica include proximal and distal conduction delay by external HBR even in the absence of abnormality of the standard 12-lead ECG. There may also be an increased frequency of MVP; however, early diastolic relaxation of the LV is unimpaired, and cardiac manifestations of myotonia are not transmitted independently of neurologic abnormality.
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PMID:Left ventricular relaxation, mitral valve prolapse, and intracardiac conduction in myotonia atrophica: assessment by digitized echocardiography and noninvasive His bundle recording. 709 Sep 87

We report a 63-year-old woman who presented myotonia and parkinsonism. The patient was well until 15 years of the age when she noted that the ring finger of her left hand at times flexed when she did not intend to do so. She noted weakness in her left upper extremity at the age of 40, and difficulty in relaxing her hand grip at 45. She had an onset of tremor in her right foot at age 50, which was followed by difficulty in gait and hand writing. She was admitted to Juntendo University Urayasu Hospital when she was 63-year-old. Her mother, two sisters, and a son were affected with similar muscle weakness and myotonia. Although some of them developed stooped posture in the late stage of the disease, none of them had overt parkinsonism. General physical examination was unremarkable. Neurologic examination revealed an alert and oriented woman with some recent memory loss. She had bilateral ptosis, facial weakness, and a masked face. Myerson's sign was present. Her speech was small and monotonous. The sternocleidomastoid muscles were markedly atrophic and weak. The remaining of the cranial nerves were intact. She walked in small steps with freezing with support. She showed bradykinesia, retropulsion, and resting tremor in her right leg. Slight distal dominant weakness was noted in both upper and lower extremities more on the left. No cerebellar signs were noted. Muscle stretch reflexes were within normal limits in the upper extremities and diminished in the lower limbs. Sensation was intact. Routine laboratory findings were unremarkable. Cranial CT scan and MRI revealed slight cortical atrophy and leukoaraiosis. She responded to levodopa and she became able to walk by herself. She was transferred to another hospital one month after her admission. She had several bouts of airway obstruction with one episode of respiratory arrest. She expired six month after the transfer. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that this patient suffered from myotonic dystrophy and Parkinson's disease which set in later years. Postmortem examination on the iliopsoas muscle revealed uneven muscle fiber diameters, central nuclei, and type 1 fiber predominance; the pathologic finding was consistent with myotonic dystrophy. The substantia nigra showed marked cell loss and Lewy bodies in the remaining neurons. The finding was consistent with Parkinson's disease. In myelin stain, diffuse myelin pallor was noted in the cerebral white matter which was the pathologic substrate of leukoaraiosis in this patient. Combination of these two disorders have never been reported in the literature to our knowledge. It appears to be that the coincidence is just a by-chance phenomenon, but it seems interesting to note that accelerated aging process appears to be present in both myotonic dystrophy and Parkinson's disease.
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PMID:[A 63-year-old woman with muscle weakness, myotonia, and parkinsonism]. 886 42

Blepharoptosis is one of the troublesome ocular complications of myotonic dystrophy. To correct drooping eyelids for two men with myotonic dystrophy, we used Eye Putti, a cosmetic made of natural rubber latex, which induces a new fold in the upper eyelid. The cosmetic rubber latex dramatically improved the sight of a 59-year-old patient who previously had a great difficulty in looking forward and had to bend his head backward to see an object because of severe blepharoptosis. The other patient aged 54 with moderate ptosis also had satisfactory improvement. Appropriate use did not prevent eye blinking and induce corneal erosion or skin rash. The cosmetic rubber latex was effective to patients who had no residual function of the levator palpebrae and frontal muscles. This daily treatment is simple and safe, therefore may have an advantage over surgical correction of blepharoptosis for patients not only with myotonic dystrophy, but with other neuromuscular disorders including oculopharyngeal muscular dystrophy.
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PMID:[Beneficial effect of eyelid make-up (natural rubber latex) to induce a new fold in the treatment of blepharoptosis in myotonic dystrophy]. 1100 33

Myotonic dystrophy (DM) is an inherited, autosomal dominant muscular disease which is primarily caused by a CTG trinucleotide expansion mutation on chromosome 19q13.3. The size of this trinucleotide repeat is related both to the age of onset and to the severity of the clinical manifestation. This disease is very rare in Taiwan, and clinical and genetic study on DM has not yet been documented in this area. Here, we present both clinical features and degrees of CTG expansion for a Taiwanese DM family. All of the DM patients examined in this family showed obvious clinical manifestations by age 30, which included facial and limb muscle weakness with atrophy, myotonia, and ptosis. In addition, individual DM members also exhibited variable phenotypes, which may reflect the complexity of the pathogenic mechanism. Because the collection of blood specimens was considered to be an invasive procedure, a genetic study on this DM family was performed using buccal cells. Our results confirmed that four members showing classic symptoms of DM had CTG repeat expansion in the DMI locus, and that one member with ptosis and minor muscle weakness in the right foot was a normal homozygote for CTG repeat. These data demonstrate that buccal cells can provide clear and reliable results, and thus, are suitable for a family study of DM.
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PMID:Delineation of CTG repeats and clinical features in a Taiwanese myotonic dystrophy family. 1125 71

Besides hereditary macular dystrophies as well as acquired and age-related macular degenerations, systemic disorders should also be considered as a rare cause of maculopathy. In particular, myotonic dystrophy (Curschmann-Steinert syndrome), also characterized by the presence of ptosis and a pathognomic star-shaped cataract, should be taken into account since a reticular dystrophy of the retinal pigment epithelium could be observed, resulting in a visual impairment of various degrees. A clinical case have been retrospectively reviewed and reported in this paper.
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PMID:[Maculopathy in Curschmann-Steinert myotonic dystrophy]. 1263 95


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