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PubMed1995

[Muscular diseases in hyperthyroidism].

Hyperthyroidism may present various muscular diseases, namely thyrotoxic chronic myopathy, myasthenia gravis, disthyroid ophthalmopathy and thyrotoxic periodic paralysis. Although infrequent, it is possible to find some of these clinical situations in a medical ward of a general hospital. Differential diagnosis must be made with chronic idiopathic polymyositis and certain congenital myopathies. We describe three patients with hyperthyroidism; one of these patients had chronic thyrotoxic myopathy and another had myasthenia gravis. The third had a thymolipoma and ocular changes probably corresponding to myasthenia gravis.

Adult↗
PubMed1997

[Genetic aspects (analysis and diagnosis) of muscular diseases--recent advances and future prospects].

Considerable advances in the genetic analysis and diagnosis of muscular diseases made during the past years that may allow detailed clinical understanding, specific diagnosis, hope for gene therapy, and better genetic counseling of the disease. The scientific research progress in the human genetics, however, raised social and ethical issues. This would largely not due to the genetic technology but with its proper use. In this introductory note, I am going to describe the recent advances and future prospects of genetic aspects of the muscular disease.

Chromosome Mapping↗
PubMed1980

Use of X-ray techniques to demonstrate electively increased damage to certain muscles in patients suffering from muscular diseases.

In X-ray examinations on 38 patients suffering from muscular diseases the authors demonstrated electively pronounced damage to certain muscles in 18 cases. The decay of muscle fibres within a single muscle is not always uniform and is often bilaterally asymmetrical. Before biopsy or EMG examinations it is advisable to take an X-ray of the damaged musculature.

Atrophy↗
PubMed2006

[Pulmonary atelectasis in patients with neurological or muscular disease; gravity-related lung compression by the heart and intra-abdominal organs on persistent supine position].

We report 10 cases of pulmonary atelectasis diagnosed by chest computed tomography in patients with neurological or muscular disease. Atelectasis was frequently seen in hypotonic patients who could not roll over on their own. The atelectases located mostly in the dorsal bronchopulmonary segments, adjacent to the heart or diaphragm. Atelectasis diminished in two patients after they became able to roll themselves over. Gravity-related lung compression by the heart and intra-abdominal organs on persistent supine position can cause pulmonary atelectasis in patients with neurological or muscular disease who can not roll over by their own power. To confirm that the prone position reduces compression of the lungs, chest computed tomography was performed in both the supine and the prone position in three patients. Sagittal images with three-dimensional computed tomographic reconstruction revealed significant sternad displacements of the heart and caudal displacements of the dorsal portion of the diaphragm on prone position compared with supine position. The prone position, motor exercises for rolling over, and biphasic cuirass ventilation are effective in reducing gravity-related lung compression. Some patients with intellectual disabilities were also able to cooperate in chest physiotherapy. Chest physiotherapy is useful in preventing atelectasis in patients with neurological or muscular disease.

Abdomen↗
PubMed2004

Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases.

Coenzyme Q10 (Q10) is available as an over-the-counter dietary supplement in the United States. While its use could be considered a form of alternative therapy, the medical profession has embraced the use of Q10 in specific disease states, including a series of neurologic and muscular diseases. Clinical laboratory monitoring is available for measurement of total Q10 in plasma and tissue and for measurement of redox status, ie, the ratio of reduced and oxidized forms of Q10. Many published studies have been anecdotal, in part owing to the rarity of some diseases involved. Unfortunately, many studies do not report Q10 levels, and, thus, the relationship of clinical response to Q10 concentration in plasma frequently is not discernible. Consistent laboratory monitoring of patients treated with this compound would help ease interpretation of the results of the treatment, especially because so many formulations of Q10 exist in the marketplace, each with its own bioavailability characteristics. Q10 has an enviable safety profile and, thus, is ideal to study as an adjunct to more conventional therapy. Defining patient subpopulations and characteristics that predict benefit from exogenous Q10 and defining therapeutic ranges for those particular applications are major challenges in this field.

Coenzymes↗
PubMed1996

Analysis of dystrophin in muscular diseases by two-dimensional gel electrophoresis using agarose gels in the first dimension.

We analyzed dystrophin in case of normal control, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and infectious muscular disease using two-dimensional gel electrophoresis and immunoblotting with 3 monoclonal dystrophin antibodies: Dys 1, a mid-rod-domain antibody; Dys 2, a C-terminal-domain antibody; and Dys 3, an N-terminal-domain antibody. In cases of normal control, a clearly separated doublet of bands was observed for Dys 1 and 3 at molecular weights 400 and 420 kDa. The isoelectric point was between pH approximately 5.7-approximately 5.9, similar to that for the myosin heavy chain. In one DMD case, a single faint band was observed for Dys 2. BMD presented a single-band pattern for each antibody. Infectious diseases cases showed 3- to 5-band patterns for Dys 1 and single or no bands for Dys 2 and 3. The pI of the Dys 1 band was almost identical. These results suggest coexistence of normal dystrophin and its proteolytic products, both containing triple helical segment, and show that two-dimensional gel electrophoresis may be applicable in the analysis of dystrophin in muscular disease.

Adolescent↗
PubMed1998

[The significance of Ulex europaeus agglutinin I lectin binding fibers in various muscular diseases].

In the present study, we have reported that Ulex europaeus agglutinin I (UEA I) lectin labeled muscle fibers in distal myopathy with rimmed vacuole formation (DMRV). UEA I binding to muscle fibers was also observed in a small number of biopsies with inflammatory myopathy, but not in other diseases, including neurogenic muscular atrophies and muscular dystrophies. In order to elucidate the relationship between this UEA I binding, rimmed vacuole formation and active autophagocytosis, we examined the UEA I binding fibers in other myopathies which frequently showed rimmed vacuoles, including adult onset acid maltase deficiency, oculo-pharyngo-distal type myopathy and oculopharyngeal muscular dystrophy. No UEA I lectin labeling fiber was observed in the diseases examined. We then studied UEA I binding behavior on 70 biopsies of inflammatory myopathy to characterize the clinical features of UEA I binding positive patients. UEA I binding fibers were observed in 3 of 28 patients (11%) with other collagen diseases, 11 of 36 (31%) without these disorders, and 2 of 6 (33%) with inclusion body myositis. There were no common clinical histories, complications or laboratory findings among the UEA I binding positive patients. In conclusion, a common process may exist between the muscle fiber degeneration in DMRV and subgroups of inflammatory myopathy patients, but the basic mechanism remains to be elucidated.

Adolescent↗
PubMed1994

Swallowing disorders in muscular diseases: functional assessment and indications of cricopharyngeal myotomy.

Thirty-four patients with an identified muscular disease were referred to our department for assessment and treatment of swallowing difficulties. Their ages ranged from 16 to 91 years (mean 59). The diagnoses were oculopharyngeal dystrophy in 17 patients, Steinert myotonic dystrophy in 6, mitochondrial myopathies in 4, polymyositis in 3, and other types in 4 patients. The main consequences of the dysphagia were weight loss (12 patients), pulmonary infections (15 patients), modified food consistency (18 patients) and non-oral feeding (3 patients). Several techniques were used to assess the different stages of deglutition: physical examination during swallowing, videofluoroscopy, pharyngoesophageal manometry, videofibroscopy of the pharynx during swallowing. Major pathological features found in the pharynx were decreased pharynx peristaltis and impaired UES relaxation. Cricopharyngeal myotomy was performed in 11 myopathic patients (median follow-up 24.9 months), while it was unnecessary, refused or contraindicated in the other patients. The procedure was successful in 8 patients whose dysphagia was dramatically improved, and failed in 3 patients. Pharyngeal perstaltis was severely impaired only in the 3 failures and was partly preserved in the improved cases. We conclude that pharyngeal function is the major prognostic factor. Cricopharyngeal myotomy is an effective treatment in those cases where cricopharyngeal dysfunction is a predominant problem or where pharyngeal peristaltis is partly impaired, since the procedure removes one obstacle. It is contraindicated when pharynx propulsion is severely impaired.

Adolescent↗