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PubMed2000

[Hidden intracardiac conduction disturbances and their spontaneous course in patients with progressive muscular dystrophy].

In patients with progressive muscular dystrophy (PMD) invasive electrophysiologic studies can detect hidden intracardiac conduction disturbances. The aim of this study was a long-term follow-up of these patients. Twelve consecutive patients (9 m, 3 f, age 28 +/- 4 yrs) without cardiac symptoms and with normal echocardiographic findings were included in the study. They suffered from different stages of PMD type Erb (n = 4), Becker-Kiener (n = 4), Duchenne (n = 2) and Landouzy-Déjerine (n = 2). At the beginning of the study all patients underwent an invasive electrophysiologic study (EPS). The follow-up of 5.5 yrs included regular clinical visits, ECGs, and Holter recordings (every 3 months) as well as an echocardiography every 6 months. In 4 patients the EPS revealed a hidden interatrial conduction disturbance (AHRS-ACS 120 +/- 18 ms), and in 10 pts an infrahisian conduction disturbance was found (HV max. 156 +/- 4 ms). Conduction defects were seen independently from the type of PMD and the stage of the disease. During the follow-up the initially hidden interatrial conduction disturbance became evident in the surface ECG in 2 of 4 pts. One of them developed paroxysmal atrial fibrillation. Five of 10 pts with an initially hidden infrahisian conduction disturbance developed an AV block grade I-III and in one case additionally a bundle branch block. Four of these pts--whose PMD showed progression or who developed congestive cardiomyopathy--needed pacemaker implantation because of a first-degree AV block + bifascicular bundle branch block (n = 1), a Mobitz II second-degree AV block (n = 1) or a third-degree AV block (n = 2). None of the pts with normal findings at the EPS showed abnormal p-waves, an AV block, or an intraventricular conduction disturbance during the follow-up. We conclude that intracardiac conduction disturbances, especially infrahisian defects including high-degree AV blocks, are a common finding in pts with PMD. Therefore a regular cardiological screening including an ECG and a Holter recording is reasonable in these patients.

Adolescent↗
PubMed1997

Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.

Autosomal recessive progressive muscular dystrophies may be clinically subclassified into limb-girdle muscular dystrophy (LGMD) and distal myopathy (DM), each clinical form being genetically heterogeneous. Genes for LGMD type 2B and Miyoshi myopathy (a form of DM) have been mapped to essentially the same region on chromosome 2p. We described recently a large inbred family with autosomal recessive muscular dystrophy in which the LGMD and the DM phenotypes were manifested in separate affected members, and we assigned the gene for this condition to the same locus as in LGMD2B and Miyoshi myopathy. Here we report extended haplotypes in this family generated from 15 markers located at the region of interest on chromosome 2p13. Key recombinants allowed us to reduce further the candidate region for this polymorphic condition and defined the loci D2S327 and D2S2111 as the most likely boundaries of the mutant gene.

Chromosome Mapping↗
PubMed1989

[Observation on the therapeutic effect of external counterpulsation in progressive muscular dystrophy].

Twelve cases of progressive muscular dystrophy were treated with external counterpulsation (ECP). The therapeutic results of ECP were shown as follows: markedly improved, 3 cases: improved 6 cases: slightly improved 2 cases and no effect 1 case after ECP Clinical, improvement in various degrees developed in all the cases. Dystrophy muscle enlarged in 11 of the 12 cases. Gastrocnemius muscles softened and lessened in 3 of 8 cases. CPK markedly decreased in 9 of 10 cases. In electron microscopic examination the ultrastructure of the diseased muscles was found to have obviously improved, the structure and form of most mitochondria returned to normal, and collection of glycogen was rarely seen.

Adolescent↗
PubMed1985

Progressive muscular dystrophy in Denmark. Natural history, prevalence and incidence.

Prevalence of progressive muscular dystrophy in 1965 and incidence in Denmark for the period 1965 to 1975 was studied by collection of data from hospital departments, nursery homes and general practitioners. This material was supplemented with information from death certificates and disablement pension records. Total patient group included 445 patients with progressive muscular dystrophy alive January 1st 1965. Prevalence was 69.4 per 10(6) male inhabitants in the Duchenne type, whereas the prevalences in the limb-girdle and facioscapulohumeral types were 36.5 and 18.6 per 10(6) inhabitants, respectively. Incidence was 222 per 10(6) male newborns in the Duchenne type, 66 and 26 per 10(6) newborns for the limb-girdle and the facioscapulohumeral types, respectively. Figures for the Duchenne type are in agreement with previous results. Both prevalence and incidence rates for the limb-girdle and the facioscapulohumeral types exceed published figures by a factor 3 to 6. These high Danish rates seem to reflect the true prevalence and incidence in the less serious types of progressive muscular dystrophy, probably because the Danish health system with free medical care and easy access to specialized hospital departments makes it possible to identify all cases of progressive muscular dystrophy.

Adolescent↗
PubMed2006

Non-viral gene therapy for Duchenne muscular dystrophy: progress and challenges.

Duchenne muscular dystrophy (DMD) is one of the most common lethal, hereditary diseases of childhood. Since the identification of the genetic basis of this disorder, there has been the hope that a cure would be developed in the form of gene therapy. This has yet to be realized, but many different gene therapy approaches have seen dramatic advances in recent years. Although viral-mediated gene therapy has been at the forefront of the field, several non-viral gene therapy approaches have been applied to animal and cellular models of DMD. These include plasmid-mediated gene delivery, antisense-mediated exon skipping, and oligonucleotide-mediated gene editing. In the past several years, non-viral gene therapy has moved from the laboratory to the clinic. Advances in vector design, formulation, and delivery are likely to lead to even more rapid advances in the coming decade. Given the relative simplicity, safety, and cost-effectiveness of these methodologies, non-viral gene therapy continues to have great promise for future gene therapy approaches to the treatment of DMD.

Animals↗
PubMedDate not supplied

[Progressive muscular dystrophies and drug risks].

Many therapeutic agents are necessary during the evolution of progressive muscular dystrophy to cure intercurrent diseases. Some of them may impair muscular structure and induce rhabdomyolysis, toxic or inflammatory myopathy. Other treatments may produce metabolic and functional alterations or impair cardiac and respiratory functions, yet endanged in progressive muscular dystrophy. They must be contra-indicated or used carefully during progressive muscular dystrophy.

Humans↗
PubMed1997

Cardiac involvement in progressive muscular dystrophy of the Duchenne type.

Duchenne's progressive muscular dystrophy (DMD) is a genetic muscle disorder that causes degeneration and atrophy of the systemic and cardiac muscle. The disease is manifested early in childhood, and most of patients die by age 20 years of respiratory failure or heart failure. The cardiac involvement in DMD is characterized pathologically by degeneration and fibrosis of the myocardium, centering around the posterolateral wall of the left ventricle. Functionally, an abnormal electrocardiogram, valve motion, wall thickness, and wall motion are observed. Furthermore, abnormalities in plasma levels of atrial natriuretic peptide and autonomic function are also demonstrated. In this review, the cardiac involvements in DMD in the following aspects are described: 1) Electrocardiogram; a) high-frequency notches on the QRS complexes, b) amplitude of QRS complexes, c) late potential, d) arrhythmias, e) heart rate variability, f) a 10-year follow-up study, 2) Echocardiographic findings, 3) Hemodynamic findings, 4) Atrial natriuretic peptide.

Arrhythmias, Cardiac↗
PubMed1989

[A case of progressive muscular dystrophy with pulmonary hypertension].

A case of progressive muscular dystrophy of the limb girdle type is reported. The patient, a 37-year-old man, showed severe hypoxemia upon blood gas analysis, which had been predicted by pulmonary function tests, together with elevated pulmonary arterial pressure revealed by cardiac catheterization. He showed abnormal symptoms of respiration during the night, and so a sleep study was performed. The results revealed central type apnea not only during REM sleep but also frequently during NREM sleep. Acidosis and hypoxemia induced by sleep apnea caused vasoconstriction of the pulmonary artery and long-term repetition of this had caused pulmonary hypertension.

Adult↗
PubMed1985

Evaluation of myocardial involvement in Duchenne's progressive muscular dystrophy with thallium-201 myocardial perfusion imaging.

Myocardial involvement in progressive muscular dystrophy of the Duchenne type was evaluated in 19 patients using thallium-201 myocardial perfusion imaging. A qualitative analysis was performed from five projection images by three experienced physicians. Distinct perfusion defects were shown in 13 patients, especially in the LV posterolateral or posterior wall (11 patients). There was no significant relationship between the presence of perfusion defects and the skeletal muscle involvements or thoracic deformities assessed by transmission computed tomography. Extensive perfusion defects were shown in 2 patients who died of congestive heart failure 1 to 2 years after the scintigraphic study. Progression of the myocardial scintigraphic abnormalities were considered to be minimal in 7 of 9 patients who underwent two serial scintigraphic studies over 2 to 3 years. It was concluded that thallium myocardial perfusion imaging is a useful clinical technique to assess myocardial involvement in Duchenne's progressive muscular dystrophy.

Adolescent↗
PubMed1963

ABNORMAL MYOGLOBIN ULTRAVIOLET SPECTRUM IN DUCHENNE TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY.

Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy.

Hemoglobins↗
PubMed1989

[Pseudohypertrophic proximal progressive muscular dystrophy with a malignant course manifesting itself in adolescence].

The authors describe an unique case of progressive muscular dystrophy in four brothers T. The disease was peculiar in its debut in adolescence, localization of muscular atrophies in proximal limbs, pseudohypertrophy of various muscular groups, malignant course of the myodystrophy with concomitant endocrine and metabolic disorders. A primarily muscular nature of the disease was confirmed in electrophysiological and pathological investigation. X-linked recessive inheritance of the progressive muscular dystrophy was supposed in T family. The issues of differential diagnosis, clinical polymorphism and genetical heterogeneity of X-linked recessive progressive muscular dystrophies are discussed.

Adolescent↗
PubMed1976

The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis.

The gross and microscopic appearance of the hearts from eight patients with Duchenne's progressive muscular dystrophy are described. Seven hearts had gross evidence of myocardial fibrosis, five of these demonstrating distinctive fibrosis of the epimyocardial portion of the free wall of the left ventricle, often with a striking band-like appearance. On the basis of mapping studies of the myocardial fibrosis, a theory regarding the progression of myocardial fibrosis in Duchenne's progressive muscular dystrophy is presented. Correlation of the pathologic anatomy, electrocardiograms, and vectorcardiograms in these patients and the family studies of others suggests that Duchenne's progressive muscular dystrophy represents a generalized cardiomyopathy that has its gravest and most distinctive effect on the epimyocardial portion of the free wall of the left ventricle.

Adolescent↗