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PubMedDate not supplied

[The incidence of the X-linked progressive muscular dystrophies in Tuscany from 1966 to 1974 (author's transl)].

An investigation was carried out to establish the incidence of X-linked progressive muscular dystrophies in Tuscany from 1966 to 1974. 52 cases were identified, the incidence being 23,95 X 10(-5) with reference to live-born males. The frequency of new mutations calculated according to Haldane's method was 7,97 X 10(-6). These data practically correspond to those reported by other AA. in Italy and abroad. There was also a remarkable variability in the incidence among individual districts with values ranging from 7,60 X 10(-5) to 41,91 X 10(-5). It was noticed that the number of new cases tended to decrease in the last few years.

Female↗
PubMed1984

Serum muscle-specific enolase in progressive muscular dystrophy and other neuromuscular diseases.

Serum muscle-specific enolase ( MSE , beta beta and alpha beta enolases) levels were determined in 162 patients with progressive muscular dystrophy (PMD) and other neuromuscular diseases by means of an enzyme immunoassay method. The relationships were examined between serum MSE , creatine kinase (CK) and other markers of muscle disease. Serum MSE was strikingly increased in Duchenne muscular dystrophy, and this elevation was more prominent in younger patients. Serum MSE was also increased in other types of PMD and certain other diseases. Serum MSE showed the highest correlation with CK. In the PMD group, the frequency of cases with elevated MSE was the same as in CK. These results indicated that serum MSE may well be a specific marker of muscle disease on a par with CK.

Adolescent↗
PubMed1996

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

We describe a unique six-generation, highly consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan. Three separate clinical phenotypes of progressive muscular dystrophy were identified in this large family. Seven patients developed a classical limb-girdle variant of muscular dystrophy (LGMD), with disease onset at 15-30 years and loss of ambulation within a 25-year course. The second group included three patients with a slowly progressive distal myopathy first manifested in the late teens and confined to the tibial and calf muscles. Each of these two phenotypes segregated independently as an autosomal recessive trait, and muscle biopsies showed non-specific myopathic changes. Lastly, two male siblings exhibited an atypical variant of Duchenne muscular dystrophy confirmed by detection of a deletion in the dystrophin gene. To clarify the molecular basis of the polymorphic autosomal recessive form of muscular dystrophy in this kindred, we performed molecular genetic studies on 67 family members and obtained significant evidence for linkage to chromosome 2p. A maximum pairwise lod (logarithm of odds) score of 5.64 was achieved at the zero recombination fraction (i.e. at theta = 0.00) for locus D2S291; multipoint linkage analysis confirmed the most likely location of a mutant gene near D2S291. The patients with LGMD and those with the distal muscular dystrophy phenotype share a common affected homozygous haplotype associated with the same founder chromosome; key recombinants defined D2S286 and D2S292 to be the closest loci flanking the mutant gene. Remarkably, two clinically distinct forms of autosomal recessive muscular dystrophy, LGMD type 2B (LGMD2B) and Miyoshi myopathy, were recently mapped to the same locus. We suggest that all three chromosome 2p-linked conditions may represent allelic disorders, i.e. different phenotypic expressions of a single gene.

Adolescent↗
PubMed1999

QT dispersion in patients with Duchenne-type progressive muscular dystrophy.

BACKGROUND: A high degree of QT dispersion is a risk factor for arrhythmic sudden death in patients with myocardial infarction and cardiomyopathy. Duchenne-type progressive muscular dystrophy (DMD) is also associated with the development of ventricular arrhythmias. The purpose of this study was to determine the relationship between QT interval dispersion and ventricular arrhythmias in patients with DMD. METHODS: Sixty-seven patients with DMD were studied. Standard 12-lead electrocardiograms and 24-hour Holter electrocardiograms were recorded, and the QT interval was determined in every lead of the standard electrocardiogram to determine the QT dispersion. QT dispersion was compared with the frequency of ventricular arrhythmias and the severity of skeletal muscle damage on the basis of the Swinyard and Deaver 8-stage scale. RESULTS: QT dispersion in all 67 patients averaged 54 +/- 18 ms. The QT dispersion was 49 +/- 16 ms in stage 5 patients, 61 +/- 22 ms in stage 6 patients, 52 +/- 17 ms in stage 7 patients, and 56 +/- 17 ms in stage 8 patients. Ventricular arrhythmias of Lown grade III or higher were observed in 3 of 35 patients with QT dispersion <60 ms and in 14 of 32 patients with QT dispersion >/=60 ms. Logistic regression analysis demonstrated that QT dispersion is an independent risk factor for ventricular arrhythmias of grade III or higher in patients with DMD. CONCLUSIONS: The incidence of ventricular arrhythmias of Lown grade III or higher was greater in patients with QT dispersion >/=60 ms than in patients with QT dispersion >60 ms. QT dispersion therefore is a risk factor for serious ventricular arrhythmias in patients with DMD.

Adolescent↗
PubMed1991

Late potentials in progressive muscular dystrophy of the Duchenne type.

This study describes the late potentials (LPs) obtained by signal-averaged electrocardiography (SAECG) in 66 patients with Duchenne's progressive muscular dystrophy (DMD). It also assesses the possible relationships between LPs and the severity of DMD, and the findings of two-dimensional echocardiography, as well as ventricular arrhythmias examined with the Holter system. SAECGs were performed with a Marquette MAC-1 unit. Based on Swinyard-Deaver's system of stages, ranging from the mildest, S1, to the most severe, S8, one patient each could be assigned to S2 and S4, 6 to S5, 20 to S6, 21 to S7, and 17 to S8. LPs were observed in 21 of the 66 patients (32%), including 3 of the 20 assigned to S6 (15%), 10 of the 21 in S7 (48%), and 8 of the 17 in S8 (47%). The total wall motion index evaluated by the method of Hegar was significantly greater in the patients with LPs (8.4 +/- 4.4) than in those without LPs (5.8 +/- 3.1) (p less than 0.05). The incidence of LPs was found to be higher in the dilated cardiomyopathy (DCM) type (8 of 12;67%) than in the normal type (9 of 41;22%) (p less than 0.01). The incidence of ventricular premature complexes (VPCs) was significantly higher in patients with LPs (13 of 21;62%) than in those without LPs (13 of 45;29%) (p less than 0.05). No sustained ventricular tachycardia (VT) was observed, although nonsustained VT was noted in three patients with LPs. The LPs in patients with DMD were thus associated with left ventricular dysfunction, and the presence of LPs might be correlated with the extent of myocardial derangement in DMD.

Adolescent↗
PubMed1990

[Pathohistology of progressive muscular dystrophy and the relationship between necrotic and regenerative fibers].

Enzyme histochemistry and acridine orange (AO) fluorescence techniques were used for studying muscle biopsy specimens of progressive muscular dystrophy in 75 cases. Five characteristic pathologic patterns for diagnosis were summarized. The level of serum CPK was be used as a marker for judging necrotic fibers. The result of AO staining showed that the number of regenerating IIc type fibers in DMD increased by 5-20%. This indicates that the numbers of the IIc type fibers are also related to necrotic fibers. The authors consider that the regenerative course is a compensatory repair reaction on necrotic fibers. But clinically, the speed of necrosis development is much higher than that of regeneration. Thus, enhancing the synthesis of proteins and promoting the capacity of regeneration should be considered as a new approach to effective therapy for DMD patients.

Adolescent↗
PubMedDate not supplied

[Malate dehydrogenase and its isoenzymes in the peripheral blood leukocytes in progressive muscular dystrophy of the Duchenne type].

The authors studied the composition of isoenzymes of malic dehydrogenase in peripheral blood leucocytes of patients with Duchenne-type progressive muscular dystrophy, their mothers and sisters, and also in other primary muscular diseases. The studied group included 25 patients with Duchenne dystrophy, 20 their mothers and sisters, and 11 patients with other primary muscular diseases. The control group comprised 10 healthy subjects aged 19-40 years. Sporadically a decrease was observed of total activity and of the amount of the mitochondrial isoenzyme of MDH in Duchenne dystrophy. In one case the m-MDH isoenzyme was completely absent, this patient had most advanced disease. In the mothers of patients decreased MDH activity occurred rarely (once in 13 mothers) and the pattern of MDH isoenzymes was normal, similarly as in sisters of these patients. In other primary muscular diseases no abnormalities were found.

Adolescent↗
PubMed1984

The causative mechanisms of mitral valve prolapse in progressive muscular dystrophy in reference to thorax and thoracic spine deformities and left ventricular dysfunction.

The causative mechanisms of mitral valve prolapse (MVP) were evaluated in 58 patients with progressive muscular dystrophy (PMD). Two possible causes, 1) left ventricular (LV) dysfunction and 2) thoracic spine and thorax deformities were assessed. Patients were classified into three groups by echocardiographic findings. Group 1: 31 patients without MVP, group 2: 11 patients with MVP confirmed only by M-mode echocardiogram, group 3: 16 patients with MVP confirmed by both two-dimensional and M-mode echocardiograms. LV functions evaluated by systolic time intervals and fractional shortening showed no significant differences among the three groups. Scoliosis of the thoracic spine was not related to the incidence of MVP. Lordotic or straight spines were found in 32.3%, 100%, 93.8% of cases in group 1, group 2 and group 3, respectively, and the incidences of MVP in cases with kyphosis, straight spine and lordosis were 4.8%, 66.7% and 77.8%, respectively. The shape of the thorax as evaluated by the ratio of anteroposterior internal diameter to transverse diameter was more flattened in groups 2 and 3 than in group 1. From these results, we concluded that LV dysfunction was not related to the incidence of MVP and that the lordotic or straight spine and the flattened thorax were supposed to be the major factors in the occurrence of MVP in PMD.

Adolescent↗
PubMed1979

Orthogonal electrocardiographic study on progressive muscular dystrophy of the Duchenne type.

An attempt was made to investigate the incidence and significance of high frequency notches and slurs on the QRS complex in patients with progressive muscular dystrophy of the Duchenne type (PMD). The patients were classified into eight stages from the most mild, S(1), to the most severe, S(8), according to Swinyard-Deaver's criteria. Cases where the sum of high frequency notches in the combined leads exceeded none were generally limited to those more advanced than stage S(4). Also, the sum of the notch count tended to be higher in S(5) to S(6) than in the remaining groups and to be lower in the milder cases, S(1) to S(4), and most severe cases, S(7) and S(8). It should be emphasized that cases in groups S(7) and S(8) who had a history of congestive heart failure and/or developed congestive heart failure during the observation period, tended to show a smaller number of notches. High frequency slurs showed almost the same tendencies as the high frequency notches. It is thus anticipated that a significant increase or decrease in the number of notches and slurs on the QRS complex may be suggestive of more intense myocardial derangement.

Adolescent↗
PubMed1993

Three-dimensional spinal deformity in scoliosis associated with cerebral palsy and with progressive muscular dystrophy.

The authors analyzed lateral deviation, anteroposterior deformity, and rotation of the spinal column of 11 patients with scoliosis associated with cerebral palsy (CP) and 11 patients with progressive muscular dystrophy (PMD). There was a correlation between the magnitude of Cobb angle and that of the vertebral rotation in scoliosis associated with both CP and PMD, but the ratio of spinal rotation to Cobb angle in the former was lower than that in the latter. The magnitudes of thoracic kyphosis and of lumbar lordosis were not correlated with Cobb angle in either group, but the sagittal plane deformity in the CP patients was less severe than that in the PMD patients, and the latter demonstrated kyphosis of the lumbar spine and lordosis of the thoracic spine.

Adolescent↗
PubMed1981

Echocardiographic study of the Duchenne type of progressive muscular dystrophy.

The present study was undertaken in an attempt to clarify whether or not any relationship exists between the echocardiographic indices of cardiac function and the severity of progressive muscular dystrophy of the Duchenne type (PMD). A total of 75 patients with PMD was used for analysis. Among the echocardiographic parameters measured in the study, the maximal diastolic endocardial velocity (DEVM) and ejection fraction (EF) revealed a gradual decreasing tendency with increasing severity of the disorder. It can be concluded therefore that DEVM and EF may represent useful indices in the assessment of cardiac function in PMD.

Adolescent↗
PubMed1995

Circadian rhythm and variability of heart rate in Duchenne-type progressive muscular dystrophy.

Using 24-hour Holter monitoring and time domain and power spectral measurements, we evaluated the variability of the heart rate and its circadian rhythm in 55 male patients with Duchenne-type progressive muscular dystrophy (DMD) to characterize their autonomic function versus findings in 20 normal controls. Comparisons were also made in patients with mild, moderate, and severe stages of DMD. The percent difference between successive RR intervals that exceeded 50 ms, a measure of parasympathetic tone, was significantly lower even in patients with early stage of DMD than in controls (p < 0.01). This trend became marked with disease progression. Power in the high-frequency (HF) range (0.15 to 0.40 Hz), a measure of parasympathetic tone, was lower (p < 0.01), and the ratio of the power in the low-frequency (LF) range (0.04 to 0.15 Hz) and that of HF range (LF/HF ratio), a measure of sympathetic tone, was higher in DMD patients versus controls (p < 0.01). This trend was also marked with disease progression. Patients with mild or moderate disease had a slight circadian alteration in HF and LF/HF ratio. Patients with severe disease had virtually no circadian rhythm in HF. Their LF/HF ratio was higher at night (p < 0.01), lower in the morning (p < 0.01), and still lower during the day (p < 0.01), the opposite of control findings. The autonomic abnormalities in DMD were thus characterized by a significant increase in sympathetic activity and a significant decrease in parasympathetic activity. Thus, heart rate variability and circadian rhythm were useful in assessing autonomic dysfunction in DMD.

Adolescent↗
PubMed2001

Thallium-201 single photon emission computed tomography (SPECT) in patients with duchenne's progressive muscular dystrophy: a histopathologic correlation study.

The pathomorphologic mechanism responsible for abnormal perfusion imaging during thallium-201 myocardial single photon emission computed tomography (201Tl-SPECT) in patients with Duchenne's progressive muscular dystrophy (DMD) was investigated. Hearts from 7 patients with DMD were evaluated histopathologically at autopsy and the results correlated with findings on initial and delayed resting 201Tl-SPECT images. The location of segments with perfusion defects correlated with the histopathologically abnormal segments in the hearts. Both the extent and degree of myocardial fibrosis were severe, especially in the posterolateral segment of the left ventricle. Severe transmural fibrosis and severe fatty infiltration were common in segments with perfusion defects. In areas of redistribution, the degree of fibrosis appeared to be greater than in areas of normal perfusion; and intermuscular edema was prominent. Thus, the degree and extent of perfusion defects detected by 201Tl-SPECT were compatible with the histopathology. The presence of the redistribution phenomenon may indicate ongoing fibrosis. Initial and delayed resting 201Tl-SPECT images can predict the site and progress of myocardial degeneration in patients with DMD.

Adolescent↗
PubMed1997

[Mapping of the gene for autosomal-recessive progressive muscular dystrophy in an isolate from a highland region of Dagestan to chromosome 2-13].

A unique inbred Avar family from an isolate of the Dagestan highland was studied. Unusual phenotypic expression of autosomal recessive progressive muscular dystrophy was revealed in 12 members of this family from three generations. Limb-girdle (proximal) muscular dystrophy (LGMD) was detected in nine patients, while the other three patients displayed typical distal myopathy (DM). Genetic linkage analysis with several candidate loci determining various forms of muscular dystrophy allowed a gene for this polymorphic syndrome to be assigned to chromosome 2p13. In spite of the difference in clinical manifestation, all patients appeared to be homozygous for a unique haplotype. This implies the founder effect and proves the same genetic basis of LGMD and DM in the family. Recombination analysis showed that the centromeric and telomeric ends of the gene region are marked with D2S2111 and D2S327, respectively (genetic distance < 1 cM). This region is overlapped by two larger regions in which the genes for LGMD type 2B (LGMD2B) and Miyoshi myopathy were recently mapped. Complex analysis of clinical and genetic data indicated that LGMD2B, Miyoshi myopathy, and the revealed polymorphic syndrome may represent allelic variants of 2p13-linked autosomal recessive muscular dystrophy.

Altitude↗
PubMed2004

Hereditary muscular dystrophy in MDX mice as a homologous model for introduction of cell technologies in the treatment of progressive muscular dystrophies in humans.

Life-time monitoring of the main clinical and laboratory manifestations of hereditary muscular dystrophy in mdx mice confirmed the presence of mutation in exon 23 of dystrophin gene and the absence of this protein in skeletal muscles of mutant animals. Muscular dystrophy in mice was similar to human progressive muscle disorder, which allows the use of this model for the development of cell technologies for the treatment of hereditary muscular diseases in humans.

Animals↗
PubMed1981

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.

The Fukuyama type congenital muscular dystrophy (FCMD), which was firstly described by one of the authors in 1960, is now recognized as an independent subtype of progressive muscular dystrophy in Japan. Recent advances in clinical, pathological and etiological studies of this syndrome were extensively reviewed. A long-term observation on a large number of cases revealed a wide spectrum of clinical features and courses, and comprehensive laboratory examinations including cranial computed tomography disclosed several new findings. A sharp dichotomy exists in the study of etiology; the genetic or intrauterine infection theories, with reasonable grounds for each. The most conspicuous is the fact that FCMD had been seldom described in countries other than Japan. If attention and interest on FCMD expand in a worldwide scale, the elucidation of basic pathogenesis of this disorder will be facilitated rapidly.

Central Nervous System↗
PubMed1984

Mitral valve prolapse related to geometrical changes of the heart in cases of progressive muscular dystrophy.

The significance of geometrical changes of the heart for the development of mitral valve prolapse (MVP) was studied by echocardiograms and chest x-ray films in 58 cases of progressive muscular dystrophy (PMD). The incidence of MVP was significantly higher (p less than 0.001) in cases where the thoracic spine was straight or lordotic compared with cases of kyphotic thoracic spine. The flattening of the thorax associated with deformation of the thoracic spine was correlated with the left atrial dimension and left ventricular dimension (r = 0.62, r = 0.37, respectively; p less than 0.001), and MVP developed predominantly in cases with flattened thorax and small left atrial or left ventricular dimensions. The left atrial and left ventricular dimensions were significantly smaller in cases with MVP compared to cases without MVP (p less than 0.001, p less than 0.005, respectively). When both the left atrial and the left ventricular dimension shortened to certain levels, MVP was observed in almost all cases. From these results, it was suggested that the portion from the left atrium to the left ventricle was pressed by the forward bending of the thoracic spine, and the subsequent geometrical changes of the mitral ring and the left ventricle could produce redundancy of the chorda tendinea of the mitral valve, resulting in the occurrence of MVP.

Adolescent↗