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PubMed1999

[The usefulness of tracheostomy in Duchenne muscular dystrophy ventilated by a chest respirator].

The respiratory dysfunction in Duchenne muscular dystrophy (DMD) patients increases with age. We have attempted various methods of artificial respiration for them. Recently, a non-invasive positive pressure ventilation (NIPPV) became the first choice of respiration, but the chest respirator (CR) was still one of the choices. In our hospital, DMD patients with tracheostomy wearing a CR were alive for longer period, despite of respiratory dysfunction and complications. We studied 6 DMD patients with CR to evaluate nocturnal hypoxia index (NHI) by examining nocturnal periodic hypoxia, and measured oxygen saturation after 20 mg of clomipramine hydrochloride administration before sleep. Three patients had periodic nocturnal hypoxia which was prevented by the clomipramine administration. Two patients with tracheostomy did not exhibit hypoxia. We speculated that pharyngeal hypotonia during REM sleep induces periodic nocturnal hypoxia, therefore the tracheostomy would prevent hypoxia. Next, we examined the pharyngeal MRI on one DMD patient at the same disease stage who also had night NIPPV. We found that his soft palate and tongue shifted downward, which narrowed his pharynx during REM sleep. Consequently we have concluded that noctunnal periodic hypoxia is mainly caured by obstructive sleep apnea. For DMD patients with CR, the tracheostomy may be effective to prevent hypoxia during sleep.

Adult↗
PubMed1999

[Effective milrinone therapy to a Duchenne muscular dystrophy patient with advanced congestive heart failure].

We experienced a Duchenne muscular dystrophy (DMD) patient with severe congestive heart failure (CHF) successfully treated with milrinone. He had been diagnosed as having CHF since 24 years of age when he began to have mechanical ventilation with a nasal mask at home. Although angiotensin converting enzyme (ACE) inhibitor was effective for his CHF, cardiac function worsened year by year. Respiratory infection triggered the exacerbation of CHF at the end of 1997 (27 years old). On admission to our hospital on January 7, 1998, PaO2 was 48 mmHg and cardiothoracic ratio (CTR) was 62%. Both ventricles were dilated and ventricular wall motility was markedly reduced on ultrasonocardiography. Ejection fraction of the left ventricle (LVEF) was 5%. Serum brain natriuretic peptide (BNP) was 760 pg/ml. Continuous intravenous infusion of milrinone was started on January 8 at the rate of 0.25-0.35 microgram/kg/min. His general condition improved and LVEF increased up to 15% on January 27. No serious side effects were observed. Even after milrinone withdrawal, his cardiac condition remained stable until the end of February 1998. Temporary deteriorated CHF due to urinary tract infection was successfully treated by chemotherapy and milrinone. Subsequently he was discharged on March 13 and could stay in his home for 7 weeks uneventfully with milrinone infusion therapy. When he was readmitted to the hospital for evaluation of CHF on April 30, CTR was 44%, LVEF was 20% and BNP was 44 pg/ml. CHF is one of the life threatening complications for DMD. Although catecholamine is a well utilized agent for advanced CHF, it has limited effect in DMD, because beta receptors are down-regulated due to long-lasting cardiac dysfunction. Increased heart rate and arrhytmia are also serious problems during catecholamine therapy. Milrinone is a type III phosphodiesterase inhibitor having inotropic and vasodilatic actions with modest increase of heart rate and little torelance. Milrinone is probably effective in improving CHF of DMD and has less side effects as compared to catecholamine. We concluded that milrinone might improve quality of lives of DMD patients with advanced CHF, although further cumultative studies are necessary to confirm its effectiveness and safety.

Adult↗
PubMed1999

Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients.

Duchenne muscular dystrophy (DMD), with an incidence of one in 3500 male new borns, and its milder variant, Becker muscular dystrophy (BMD), are allelic X-linked recessive disorders, caused by mutations in the gene coding for dystrophin, a 427 kD cytoskeleton protein. There are no available molecular markers to differentiate these two. The purpose of this study was to study genetic polymorphism in muscular dystrophy and explore its potential in discriminating these two allelic forms of the disease. The results revealed unambiguously the presence of three transcripts : 598bp, 849bp and 1583bp long which are selectively expressed in the muscles afflicted with muscular dystrophy as compared to the normal muscle. 1583bp gene transcript was conspicuously present in the muscle tissues of both DMD and BMD patients whereas 598bp and 849bp long transcripts were exclusively present in DMD but not in BMD patients or normal human subjects. These gene transcripts had no sequence homology with dystrophin gene and these were also present in the families belonging to DMD and BMD patients. These results point to the fact that based upon the selective expression of these three gene transcripts, one could not only differentiate between DMD and BMD diseases at the molecular level, but also between normal and dystrophic muscle. Further, these findings also reveal that apart from dystrophin gene, these gene transcripts may also be responsible for the differential progression of DMD/BMD phenotype.

Biopsy↗
PubMed2001

Surgical repair of Descemet's membrane detachment.

The aim of the study was to demonstrate a successful repair of Descemet membrane detachment (DMD). A 73-year-old woman with pseudoexfoliative glaucoma underwent phacoemulsification with flexible posterior chamber intraocular lens implantation. Because of inadequate pupillary dilatation flexible iris retractors were used. Four days after cataract surgery, a large DMD was recognized. One day later, the patient underwent surgical repair. Three long full-thickness 10-0 nylon sutures were used to fixate DM to the cornea. The next day, DM was completely attached and the cornea was clear. Final best-corrected visual acuity was 0.9. Iris retractors may increase the risk of DMD because the iris is more anterior to the cornea. Bimanual manipulation is recommended to avoid accidental separation. No clinical case of DMD repair has been previously reported, associated with flexible iris retractors and phacoemulsification. To achieve good visual results in extensive DMD we recommend early surgical treatment.

Aged↗
PubMed2002

[From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].

Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive disorders, which almost exclusively affect males. DMD is the more severe type with an onset at 2-3 years of age. Patients become wheelchair-bound before the age of 13 and often die due to cardiac arrest or respiratory insufficiency. BMD, a more varying phenotype which may overlap with limb girdle muscular dystrophy (LGMD), has a less severe muscle weakness which starts later than in DMD patients. DMD carriers may show some muscle weakness. The dystrophin gene (2.4 Mb), known to be involved in DMD/BMD, codes for a 427 kilodalton muscle-specific protein named dystrophin as well as several tissue-specific isoforms. Dystrophin, as part of a membrane-bound complex of proteins, connects the cytoskeleton of the muscle cell to the extracellular matrix. Since 1985, when highly reliable carrier detection and prenatal diagnosis at the DNA level became possible, over 250 prenatal tests have been performed. Molecular genetic analysis, highlighted a phenomenon called germinal mosaicism, which explains the recurrence of de novo mutations and led to the discovery of the so-called reading-frame rule, which helps to discriminate between DMD and BMD. Fifteen years after the discovery of the dystrophin gene, mutations can be detected in 95% of the patients, while the remaining 5% are still hiding within this very large gene.

Chromosome Mapping↗
PubMed2002

[Sevoflurane can induce rhabdomyolysis in Duchenne's muscular dystrophy].

Rhabdomyolysis is one of the perioperative complications in patients with Duchenne's muscular dystrophy (DMD). It has been suggested that sevoflurane can be used safely for anesthesia in patients with DMD. In this report, we describe a case with DMD who received anesthesia with sevoflurane, in which rhabdomyolysis developed postoperatively. A 6-year-old boy diagnosed as DMD was scheduled for tonsillectomy under general anesthesia. Preoperative laboratory examination revealed a high level of creatine kinase (CK) (16,000-32,000 IU.l-1). An abnormality of the dystrophin gene was detected by DNA analysis. Anesthesia was induced with sevoflurane without muscle relaxant, and maintained with sevoflurane in nitrous oxide and oxygen under controlled ventilation. The course of anesthesia was uneventful and the patient recovered smoothly. Three hours postoperatively, dark red urine with a high concentration of myoglobin (1,390,000 ng.ml-1) was recognized with a high level of CK (63,500 IU.l-1). Body temperature was 37.6 degrees C, and electrocardiogram and serum potassium were within normal ranges. After the diuresis with mannitol and furosemide, the urine became clear. On the 4th postoperative day, he was discharged without any complication. This case suggested that rhabdomyolysis can develop after sevoflurane anesthesia in patients with DMD.

Anesthesia, Inhalation↗
PubMed2002

[Fatty acid composition of serum phospholipids and the effect of insulin in patients with type 2 diabetes].

BACKGROUND: A direct relation has been found between the insulin sensitivity and fatty acid (FA) composition of serum and tissue lipids in adult humans. The aim of our study was to confirm the above relation in different groups of type 2 diabetic patients (DM2). METHODS AND RESULTS: The FA composition of serum phospholipids was measured by gas liquid chromatography at the insulin action during the two-step hyperinsulinemic isoglycemic clamp (1 and 10 mU/kg.min) in a group of 21 newly diagnosed DM2 subjects (DMN) and in 24 healthy controls (HC). The DMN group consisted of a subgroup of patients treated with hypoglycemic agents (DMH; n = 21) and a group treated with the diet only (DMD; n = 11). In diabetics, the metabolic clearance rates of glucose at either insulin level (MCRglusubmax and MCRglumax) were significantly reduced in comparison with HS (MCRglusubmax--DMN: 5.35 +/- 2.7 ml.kg-1.min-1; DMH: 5.38 +/- 2.17 ml.kg-1.min-1; DMD: 5.48 +/- 2.35 ml.kg-1.min-1; HS: 10.9 +/- 3.3 ml.kg-1.min-1; p < 0.01; and MCRglumax--DMN: 13.3 +/- 3.3 ml.kg-1.min-1; DMH: 12.5 +/- 3.0 ml.kg-1.min-1; DMD: 13.3 +/- 3.0 ml.kg-1.min-1; HS: 17.4 +/- 3.8 ml.kg-1.min-1; p < 0.05). An increased content of highly unsaturated n-6 family FA (p < 0.01), especially of the arachidonic acid (DMN: 10.98 +/- 1.79%; DMD: 10.78 +/- 1.64%; DMH: 10.97 +/- 1.70% vs HS: 8.51 +/- 1.53% (p < 0.01) was found in all groups of diabetics compared to HS, and lower levels of linoleic acid in DMN (p < 0.001), and DMH (p < 0.05) were identified. The content of saturated FA and that of monosaturated FA was comparable in HS, DMN and DMD persons. While in healthy subjects a negative correlation between MCRglu and the content of saturated FA as well as a positive association between insulin action and the ration of linoleic and arachinonic acids were found, no such relation was found in the diabetic subjects. CONCLUSIONS: Different groups type 2 diabetic patients show altered FA pattern of serum phospholipids. Changes in FA composition may play a role in the modulation of insulin action in peripheral tissues, but they cannot explain the insulin resistance in type 2 diabetic patients.

Adult↗
PubMedDate not supplied

[A case of Duchenne muscular dystrophy complicated by thrombotic thrombocytopenic purpura].

We experienced a patient with Duchenne muscular dystrophy (DMD) complicated by thrombotic thrombocytopenic purpura (TTP). This patient exhibited abrupt high fever, renal dysfunction and thrombocytopenia from February 2, 2002. Hemolysis was also indicated by indirect dominant hyperbilirubinemia, although hemoglobin was only slightly decreased. No central nervous system signs and symptoms were detected. TTP was suggested by these findings and confirmed by decreased activity (21%) of von Willebrand factor cleaving protease activity. Plasma exchange was performed for 4 days from February 5, and enabled recovery. Thrombosis, such as cerebral and lung infarction, has occasionally been seen in DMD. Recently, several findings associating muscle degeneration with hypercoagulation have been reported, for example, a strong correlation between serum CK level and FDP. In seven cases of DMD with pulmonary infarction, transient elevation of serum CK was detected prior to LDH elevation. However, there have been no reports of TTP in DMD patients. Since serum CK was not elevated during our patient's clinical course, it is unlikely that muscle degeneration played a role in TTP in this patient. It should be noted that endothelial abnormalities have been reported in DMD, since endothelial injury is considered a fundamental factor in TTP.

ADAM Proteins↗
PubMed1992

[The strength and functional performance of patients with Duchenne muscular dystrophy based on natural history].

Duchenne muscular dystrophy (DMD) is a disease of progressive muscular weakness and wasting. This study is designed to evaluate the muscle strength and functional performance of patients with DMD during the natural progression of this disease. This study comprises a sample of 35 subjects who were confirmed to have DMD. Manual muscle testing (MMT) was used to evaluate muscle strength, the Brooke functional scale to rate the motor function of the upper extremity, and the Vignos functional scale to rate the motor function of the lower limbs. The results showed a significant positive correlation between age and the decrement in strength, i.e. a one year increment in age led to a 3.9% decrease in the average muscle strength. The strength loss always occurred in a typical pattern proceeding from the lower extremities to the upper extremities, and from the proximal to the distal parts. There was a significant negative correlation between muscle strength and both the Brooke and Vignos functional scales. These findings may suggest that decreased muscle strength results in a progressive worsening of the functional performance of the extremities. In addition, the Brooke scale is significantly correlated with the Vignos scale through the natural course of DMD. The high percentage (90.5%) of subjects without the long leg braces needed for ambulation indicates an inadequate rehabilitation care for DMD patients in this country.

Adolescent↗
PubMed1991

Short stature in Duchenne muscular dystrophy.

Growth rate was assessed in 187 boys affected with Duchenne muscular dystrophy (DMD) and bone age in 127 among them. Patients' heights were compared with their normal sibs, with expected stature according to midparents' stature and with normal Brazilian children of comparable age. The results showed that DMD boys have a normal length and weight at birth, but a delayed growth starting during the first years of life with a mean approximate decrease of -6.00 cm according to the expected height of the normal Brazilian population. The proportion of DMD patients with short stature (below the 3rd centile) was similar in younger boys (up to 7 years) to that in the older group (more than 7 years) of affected boys. Bone maturation in DMD boys did not differ from their normal sibs. Weight was also decreased in DMD patients as compared with normal sibs of comparable age.

Adolescent↗
PubMedDate not supplied

Abscence of changes in the protein profile of erythrocyte membranes in Duchenne patients.

Numerous authors have suggested an impairement in protein synthesis as a possible cause for the failure in growth with degeneration of the skeletal muscles protein content present in Duchenne muscular dystrophy (DMD). Others have supported the use of in vitro erythrocyte membranes as a model of the sarcolemmal changes in DMD. Very recently, in vitro decrease in protein synthesis of ribosomal proteins of skeletal muscle cells, fibroblasts and erythrocytes of DMD patients have been reported. We studied the protein profile of erythrocytic membranes of 5 patients with confirmed DMD by means of SDS-polyacrylamide discontinuous gels electrophoresis (method with which we detected changes in the electrophoretic profile of erythrocyte membrane proteins induced by myotonizing drugs) and compared it with the profile of 5 healthy subjects of a similar age range. No differences between the two groups were apparent, rising doubts about the appropriatness of the erythrocyte membrane as an in vivo model of molecular changes in DMD and about the limitations of unidimensional electrophoresis as a suitable method for the detection of such changes.

Erythrocyte Membrane↗
PubMed1991

[A two-year-old clinically manifesting carrier of Duchenne muscular dystrophy].

A two-year-old symptomatic carrier of Duchenne muscular dystrophy (DMD) confirmed by dystrophin immunohistochemical study was reported. She had mild proximal muscular weakness and elevated serum creatine kinase (CK) level. There were no family members of DMD. CT examination revealed low density areas in the muscles similar to that seen in the early stage of DMD. Biopsied specimen of muscle showed myopathic changes with necrotic and regenerating fibers. The immunohistochemical study using an antiserum against dystrophin showed the mosaic expression of the surface membrane, with positive and negative patches. Accordingly, she was strongly suggested to be a DMD carrier. This case shows that dystrophin immunohistochemistry is useful for diagnosis of a DMD carrier without affected family members.

Child, Preschool↗
PubMed1991

Southern blot and PCR analyses of dystrophin gene deletions in Japanese patients with Duchenne muscular dystrophy.

We have analyzed 34 Japanese patients of 31 families with Duchenne muscular dystrophy (DMD) by Southern blot and PCR (polymerase chain reaction) to detect large deletions in the genomic dystrophin gene on the X chromosome. Fifteen families (48%) had various deletions in the dystrophin gene by Southern blot analysis using the dystrophin cDNA probes 1-2a, 2b-3 and 8 which effectively covers the high-risk regions of deletion. Lengths and positions of the gene deletions detected were variable. Although there were no common deletions of exons in the gene of the DMD patients examined with the above cDNA probes, the deletion frequency of each exon was almost the same as the result previously reported in Caucasian DMD patients. The PCR method was also applied to confirm gene deletions in 9 cases from the above 15 families by amplifying 6 different regions of the dystrophin gene. Eight out of 9 DMD cases had gene deletions at the same genomic regions as found by Southern blot analysis. In a single DMD case, the Southern blot analysis indicated the exon 12 deletion, but PCR successfully amplified a 331 bp DNA fragment containing exon 12 and flanking introns. This difference may arise by a large deletion except for the above small 331 bp sequence in the HindIII digests of dystrophin gene.

Base Sequence↗
PubMed1991

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.

Antibodies directed against the amino- and carboxy-terminal regions of dystrophin have been used to characterize 25 Duchenne muscular dystrophy (DMD), two intermediate, and two Becker muscular dystrophy (BMD) patients. Western blot analysis revealed an altered-size (truncated) immunoreactive dystrophin band in 11 of the 25 DMD patients, in one of the two intermediate patients, and in both BMD patients, when immunostained with antiserum raised against the amino terminus of dystrophin. None of the DMD or intermediate patients demonstrated an immunoreactive dystrophin band when immunostained with an antiserum specific for the carboxy terminus of the protein. In contrast, dystrophin was detected in both BMD patients by the antiserum specific for the carboxy terminus. Quantitative studies indicated that the relative abundance of dystrophin in patients with a severe (DMD), intermediate, or mild (BMD) phenotype may overlap, therefore suggesting that differential diagnosis of disease severity based entirely on dystrophin quantitation may be unsatisfactory. Our results suggest that a differential diagnosis between DMD and BMD would benefit from examination of both the N terminus and C terminus of the protein, in addition to measurements of the relative abundance of the protein.

Adolescent↗
PubMed1990

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.

One of female MZ twins presented with muscular dystrophy. Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD). However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy. With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother. The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8. Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE). Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount. Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers. These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin. Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function. Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression. On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.

Adult↗
PubMed1990

[Torticollis as an initial symptom of adult-onset dystonia musculorum deformans].

Dystonia musculorum deformans (DMD) is an idiopathic movement disorder which usually involves pediatric age group and progresses to the generalized type. On the contrary in adult-onset DMD, dystonia is usually confined to an upper extremity and its clinical course is benign. The authors report seven patients with adult-onset DMD whose initial symptom was confined to the neck. Diagnosis of idiopathic spasmodic torticollis had been made in all of them. Average ages at the onsets of torticollis and extranuchal dystonia were 49 +/- 13 and 54 +/- 9 years (mean +/- SD) respectively. The duration between these onsets was 2-3 years in five patients and 10-17 years in two younger patients. Two patients finally developed generalized dystonia and one patient became hemidystonic type. These findings suggest that some patients diagnosed as idiopathic spasmodic torticollis are in an early stage of DMD and that this particular type progresses more likely to the generalized form than other types of adult-onset DMD.

Adult↗
PubMed1989

[Use of dystrophin c-DNA for the direct diagnosis of Duchenne muscular dystrophy in female carriers].

DNA polymorphisms have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne Muscular Dystrophy (DMD) in affected families, but serious limitations are associated with this approach. The complementary DNA (c-ADN) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients. We present the study of five DMD families in which we have shown the existence of a partial deletion in the DMD gene in the affected boys. We have evaluated the usefulness of this direct approach to diagnose DMD carriers in these families using the c-DNA derived probes. In all cases we have obtained satisfactory results. The method seems to be more reliable, more rapid and less expensive than linkage studies with DNA polymorphisms.

Chromosome Deletion↗
PubMed1979

[Comparative echocardiographic and vectorcardiographic study of 17 patients with Duchenne muscular dystrophy (author's transl)].

Cardiac impairment in Duchenne muscular dystrophy (DMD) is well known since many years. Degeneration of myocardial fibers and progressive scarring of the left ventricle, especially in the postero-basal and lateral portions, represent the habitual cardiac pathologic features of post-mortem investigations. Nevertheless many questions about etiopathogenesis and pathophysiology of "DMD cardiomyopathy" are still debated. Clinical, vectorcardiographic (VCG) and echocardiographic (ECO) data of 17 patients suffering from DMD are here reported. Patients were subdivided in two groups according to age: A) subjects from 4 to 10 yrs. (mean 0.22 +/- 1.82 yrs.), 10 cases; B) subjects from 11 to 20 yrs. (mean 15.2 +/- 2.8 yrs.), 7 cases. Both patients groups were compared with age-matched normal controls (group A1 and B1). Our results show: 1) cardiac clinical symptoms and signs, even if is present in infancy, become more evident in adult age; 2) echocardiogram allows an early diagnosis and accurate follow-up of such cardiac pathology. Group A patients, in comparison with his own control group, exhibited a significant impairment of the left ventricular function indexes (PWE, IVSE, SV, Vcf, EF%, delta S%). Moreover the older group of patients (group B), besides the alteration of the above mentioned indexes, exhibited a significant decrease of the PWT and an impairment of DEVM. This, in agreement with other Authors, gives evidence to the progressive deteriorating of cardiac function in DMD. 3) A significant correlation between ECO and VCG data is lacking. Nevertheless VCG also displays a clear tendency to get worse with age. Vectorcardiographic features well agree with the post-mortem findings of a progressive but scattered myocardial fibrosis with elective localization in postero-basal and lateral (free wall) portions of left ventricle. 4) For the most part, in our patients, cardiological instrumental findings (ECO and VCG) are well in agreement with clinical data and natural history of "DMD cardiomyopathy". The afore said methods of investigation appear very useful in the diagnostic and therapeutic management of such patients.

Adolescent↗