Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The optimal management of muscular dystrophy is multidisciplinary and aggressive in nature. Serial assessment aids in determining the functional stage of the disease and in indicating specific therapies. Physical therapy can augment strength through exercise and relieve contracture through passive stretching. Occupational therapy is employed to help the patient manage his activities of daily living within the restrictions imposed on him by his disease. Progressive disability can be delayed through a variety of physiatric and orthopedic techniques, including surgical release of lower-extremity contracture, repair of foot and ankle deformity, and correction of scoliosis. Appropriate orthoses are available, as are a variety of special devices to facilitate ongoing care for postambulatory patients. Physicians treating the muscular dystrophies should be aware of the complications of these diseases, particularly cardiomyopathy, pulmonary failure, and psychological and social problems.
 ...
PMID:The management of muscular dystrophy: a clinical review. 39 4

Myocardial function was evaluated prospectively by noninvasive methods in 20 boys with clinical, biochemical, muscle biopsy, and electromyographic evidence of Duchenne's progressive muscular dystrophy. Auscultatory evidence of a nonejection systolic click suggested mitral valve prolapse (MVP) syndrome in seven patients. Phonocardiography disclosed that the click was mid-systolic in four patients and early in three. Echocardiographic features consistent with this diagnosis were identified in all seven patients and in an additional four. One of these had an apical pansystolic murmur, suggestive of mitral regurgitation, whereas in the other three, prolapse of the mitral valve was "silent". Echocardiographic findings included an abrupt midsystolic, posterior motion (greater than 3 mm beyond the CD line) in five patients, multiple sequence echoes in six, and posterior coaptation of the mitral valve near the left atrial wall in six. The features most characteristic of MVP syndrome was a smooth, pansystolic, anteriorly concave (hammock-like) posterior motion deviating more than 3 mm beyond the CD line. Among the remaining nine patients who did not have echocardiographic evidence of prolapsing mitral valve, none had an early, middle or late nonejection systolic click or a heart murmur, although four patients in this group had moderate to severe scoliosis. These observations document of occurrence of MVP syndrome in children with Duchenne's muscular dystrophy and indicate that its prevalence is high. We speculate that prolapse of the mitral valve in these patients is an expression of the underlying cardiomyopathy characteristic of Duchenne's muscular dystrophy rather than an isolated, dystrophic involvement of the mitral valve leaflets.
 ...
PMID:Mitral valve prolapse syndrome in children with Duchenne's progressive muscular dystrophy. 44 Jul 88

The results of the operative treatment of 44 patients suffering from a neuromuscular scoliosis are presented. Only multisegmental procedures - also in combination with anterior methods - should be used to avoid a postoperative care with cast or brace. By means of the operation an average correction of the curves of 50.7% was achieved. The preoperative mean angle was 75.1 degrees, postoperatively a mean angle of 37.0 degrees (mean correction of 38.1 degrees) was determined. The preoperative angle, the duration of the operations, the blood loss and the quantity of the complications are higher than in idiopathic scolioses. As a result of the known tendency of deterioration in neuromuscular scolioses, the members of the Arbeitskreis Skoliose of the German Orthopaedic Society (DGOT) recommend an early operation (in progressing curves over 20 degrees) in patients suffering from a muscular dystrophy Duchenne.
 ...
PMID:[Indications and results of surgical treatment of neuromuscular scoliosis]. 159 72

Rigid spine syndrome (RSS) is clinically characterized by progressive limitation of flexion of the spine and contractures of other joints. We herein report a 27-year-old man with RSS, who underwent tracheotomy because of severe restrictive respiratory failure. He had limitation of neck flexion and proximal muscle weakness from early childhood and was diagnosed as having muscular dystrophy at 16 years old. He was suffered from dyspnea and his first tracheotomy was performed at 24 years old. Two years later, the second tracheotomy was done because his respiratory failure was aggravated. He had limitation of spine flexion, scoliosis, but no limited range of elbow and wrist joints movement except mild contracture of ankle joints. Serum CK level was elevated to 590 IU/L. Repeated ECG examinations showed negative T wave but no conduction block. In his family, his parents and brother had neither similar clinical symptoms nor heart block. Chest X-ray study showed elevated diaphragm and enlarged heart shadow (CTR = 65%). Percent VC and FEV1 in sitting position were 14.6% and 100%, respectively. Arterial blood gas analysis showed PaO2 of 34.2 mmHg and PaCO2 of 77.2 mmHg. The density of paraspinal muscle in CT scan was severely decreased. Needle EMG showed myogenic change. Muscle biopsy from left biceps brachii showed myopathic change with mild type 2 fiber grouping. After the second tracheotomy, he was on a respiratory during sleep but mostly off in the daytime. His clinical features are different from Emery-Dreifuss muscular dystrophy because he had no heart conduction block and no family history, but progressive respiratory failure.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[A case of rigid spine syndrome associated with severe respiratory failure]. 176 65

Reduction in dead space through conventional tracheostomy has been used to treat patients with chronic CO2 retention. The insufflation of air directly into the trachea by transtracheal catheter (airway insufflation, AI) provides reductions in dead space as great or greater than those of tracheostomy. The physiologic effects of AI on gas exchange have not been adequately studied because instillation of gases into the trachea contaminates minute ventilation (VL), dead space volume (VD), tidal volume (VT), and other indices of gas exchange, as measured by usual technics. We overcame this problem by devising special methods of measuring inspired and expired ventilation, alveolar and dead space ventilation, and VT and VD by using pneumotachographic timing of inspiration and expiration so that true inspired and expired ventilation were calculated. We studied 5 patients with chronic CO2 retention from either COPD, scoliosis, or muscular dystrophy (annual average PaCO2 = 45 to 75 mm Hg) during 75 min of AI with serial gas exchange and arterial blood gas measurements. AI at about 5 L/min of room air through the trachea in 5 patients reduced VL by 18% (from 7.91 to 6.48 L/min), VT by 25% (from 450 to 338 ml), and VD by 37% (from 223 to 141 ml), while not affecting PaCO2 (from 51.8 to 48.2 mm Hg) or PaO2 (from 65.1 to 63.4 mm Hg). In 2 patients, AI administered continuously for 4 to 12 months (as 30 to 50% O2) maintained PaCO2 as well as or better than breathing enriched O2 from a tracheal collar via an open tracheostomy.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Airway insufflation: physiologic effects on acute and chronic gas exchange in humans. 250 22

Paraspinal muscle biopsy was done on the erector spinae muscles in sixty consecutive scoliotic patients. Together with the clinical and muscle biopsy findings, these sixty patients were classified into thirty-two patients with idiopathic scoliosis, eleven patients with myopathic scoliosis, nine patients with neuropathic scoliosis, and eight patients with miscellaneous scoliosis. Of the thirty-two patients with idiopathic scoliosis, nineteen cases displayed neurogenic changes in the grouping of the Type 1 fibers and target fiber formation more common on the convex side back muscles. The myopathies consisted of central core disease, nemalin myopathy, congenital fiber type disproportion, mitochondrial myopathy, congenital muscular dystrophy, and myositis. Patients with neuropathic scoliosis all showed loss of the normal mosaic pattern and grouping of both Type 1 and 2 fibers in their muscle biopsies. This result indicates that there is a variety of neuromuscular diseases in scoliotic patients. The neurogenic changes observed more commonly on the convex side muscle of idiopathic scoliotic patients deserve further investigation.
 ...
PMID:Morphological studies on the erector spinae muscle in sixty consecutive scoliotic patients. 324

Oral occlusion pressure, a neuro-muscular index of the activity of the respiratory centers, was measured in 2 groups of children: one of 43 "healthy" children, in order to establish a predictive equation according to age (Y = 1.23 + 8.30 X A-1) and another of children presenting with respiratory failure, either due to an impairment of the thoracic cavity (10 dorsal scoliosis) or to an impairment of the respiratory muscles (29 children with muscular dystrophy or spinal muscular atrophy). The occlusion pressure increases with the degree of the ventilation deficiency in children with scoliosis. It remains paradoxically normal in children with neuro-muscular disease, irrespective of the ventilation deficiency. In the latter, the respiratory centers activity being considered as normal, this situation would indicate their muscular incapacity to correctly express this activity. It would show a severe muscular deficiency with a high risk of occurrence of respiratory distress accidents.
 ...
PMID:[Oral occlusion pressure in scoliosis and neuromuscular syndromes]. 361 64

Eleven patients diagnosed as having muscular dystrophy and who underwent posterior spinal fusion were reviewed: Becker dystrophy in one, limb girdle in two, facioscapulohumeral in one, myopathia unspecified in one, myotonia dystrophica in two, myotonia congenita in one, and hypotonia congenita in three. There were eight females and three males. The curve pattern was thoracic in four, thoracolumbar in three, double thoracic and thoracolumbar in three, and thoracolumbar lordosis in one. Scoliosis was associated with kyphosis in two, with lumbar lordosis in one, and thoracic lordosis in four patients associated with poor vital capacity and shortness of breath. Seven patients had nonoperative treatment, five showing increase of the curve, and two having control of the curve. All patients had posterior spinal fusion with instrumentation with a follow-up of 9-89 months (average, 41 months). Postoperative support was used in all but one. Major complications occurred in four patients: a symptom of vascular obstruction of the duodenum in two, extubation delayed until the 7th day postoperatively in one and pseudarthrosis in one resulting in an increasing curve and refusion. One patient (limb girdle), 6 years after surgery at 21 years died from cardiomyopathy. The second (limb girdle) lost ambulation at age 22 years, 6.6 years after spinal surgery. In conclusion, patients with muscular dystrophies other than Duchenne generally have slowly evolving curves, and the use of an orthosis in the juvenile years controlled the curve until the pubertal growth spurt, when progression occurred. Surgical treatment was successful in stabilizing the deformities.
 ...
PMID:Spinal deformities in patients with muscular dystrophy other than Duchenne. A review of 11 patients having surgical treatment. 407 Dec 69

A girl with congenital muscular dystrophy with severe scoliosis from birth was presented. No positive family history was obtainable. She developed muscle hypotonia and weakness, and feeding difficulty during the neonatal period. Her developmental milestones were delayed; she learned to walk at the age of 2 years when she walked with a "waddling gait" and stood up with Gowers' maneuver. On physical examination at 2 years old, she had mild proximal dominant muscle weakness and atrophy, and severe scoliosis with a Cobb's angle of 74 degrees but no joint contractures in the extremities. Creatine kinase was slightly elevated. Biopsied muscle showed myopathic changes, including variation in fiber size, moderate fibrous tissue proliferation, some necrotic and regenerating fibers and type 1 fiber predominance, consistent with those seen in chronic progressive muscular dystrophy.
 ...
PMID:Congenital muscular dystrophy with severe infantile scoliosis. 408 85

In a large Sudanese kindred of 176 individuals, 15 children developed a brief respiratory illness in the course of a severe autosomal recessive muscular dystrophy (MD) and eight of them died. The type of MD in this kindred delineates a newly recognized entity which has been described from Sudan, Tunisia, Libya and Qatar . To assess the role of pulmonary insufficiency in the fatal outcome of this disease, pulmonary function was studied in six of the survivors. Values of lung volume were grossly abnormal and revealed a restrictive pattern. The degree of lung volume restriction varied from 50 to 76% of predicted total lung capacity (TLC) and 31-55% of predicted forced vital capacity (FVC). The high FEV1/FVC ratio (80-100%) in all patients excluded airway obstruction and the elevated ratio of residual volume (RV) to TLC (51-68%) reflected loss of inspiratory capacity. FVC showed no correlation with the degree of muscular disability and did not seem to be affected by the mild scoliosis seen in five children. These results are discussed in view of similar studies in a variety of neuromuscular disorders.
 ...
PMID:Respiratory insufficiency in a severe autosomal recessive form of muscular dystrophy. 620 74


1 2 3 4 5 6 7 Next >>