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PubMedDate not supplied

Early symptoms of Duchenne muscular dystrophy--description of cases of an 18-month-old and an 8-year-old patient.

The paper presents the description of Duchenne progressive muscular dystrophy in an 18-month-old and an 8-year-old boy. The diagnosis was established on the basis of clinical symptoms, such as impaired motor development, hypertrophy of leg muscles, difficulty in walking; elevated serum phosphocreatine kinase activity and pathologic electromyographic recordings. The authors emphasize that the disease is characterized by increased activity of such enzymes as: alanine and aspartate aminotransferases, lactate dehydrogenase and aldolase--observed as early as in the first weeks of life, with normal gammaglutamyltranspeptidase activity suggests progressive muscular dystrophy and makes it possible to establish early diagnosis. Early diagnosis of the disease allows to start rehabilitation earlier, to select an appropriate type of anesthesia in case of surgical treatment and to advise parents within the framework of genetic counseling.

Alanine Transaminase↗
PubMed1984

Girls with muscular dystrophy.

Clinical and genetic studies were made on progressive muscular dystrophy in eight young girls. No chromosomal abnormality was observed in these patients and their mothers. The pedigrees of six cases suggested an autosomal recessive inheritance and clinical features were identical with those of Duchenne muscular dystrophy. Two other cases were compatible with childhood muscular dystrophy with autosomal recessive inheritance.

Consanguinity↗
PubMed1983

The diagnostic significance of large action potentials in myopathy.

Electromyographic and histopathological studies were performed on 112 skeletal muscles in 101 subjects with myopathy. The diagnostic significance of large action potentials (LAPs) in myopathy was studied. LAPs were defined as those action potentials with a duration of over 13 ms and an amplitude of over 3 mV (peak to peak). The following results were obtained: Most muscles with LAPs showed the grouped atrophy of small fibers of neuropathic change in addition to myopathic findings. Even in myopathy most LAPs reflected neuropathic change, except in thyrotoxic myopathy. LAPs were not related to an increase of connective tissue increasing the impedance in volume conduction of the action potentials. LAPs were frequently seen in: progressive muscular dystrophy of limb-girdle type; scapuloperoneal dystrophy; distal myopathy; oculopharyngeal dystrophy; myotonic dystrophy; polymyositis; and thyrotoxic myopathy. Other types of myopathy had few LAPs. There were two types of progressive muscular dystrophy. One had LAPs frequently and the other, rarely. In myotonic dystrophy the muscles with LAPs showed scattered small angular fibers, possibly indicating neurogenic changes. Interstitial myositis had LAPs more frequently than parenchymatous polymyositis. The chronic phase of polymyositis had LAPs more frequently than the acute or subacute phases. In thyrotoxic myopathy the muscles with LAPs rarely showed definite neuropathic change histopathologically. Therefore, LAPs in thyrotoxic myopathy may not indicate denervation.

Action Potentials↗
PubMed1991

[Electrocardiographic semiology of progressive Duchenne's muscular dystrophy].

The authors studied the ECGs of 21 boys with Duchenne's progressive muscular dystrophy (group D) aged from 8 months to 10.5 years. They were compared with 21 age matched healthy boys. There were no statistical significant differences between both groups on maximal or minimal heart rates, nor on their subtractions. There were no differences between the electrical axis of P, QRS or T waves in the frontal plane, nor in the duration or amplitude of P waves. R wave in V1 had 1.06 +/- 0.38 (mean +/- 1 standard deviation) mV in group D, and 0.62 +/- 0.29 mV in group C (p less than 0.001). R/S ratio in V1 was 1.24 +/- 0.53 in group D, and 0.70 +/- 0.50 in group C (p less than 0.01). Q wave in V6 had 0.27 +/- 0.18 mV in group D, and 0.13 +/- 0.09 mV in group C (p less than 0.01). Q/R ratio in V6 was 0.19 +/- 0.14 in group D, and 0.09 +/- 0.047 in group C (p less than 0.01). Sensibility, specificity, positive predictive value, and negative predictive values for signs over 75 percentile (Davignon standards) were: for R wave in V1 71.4%, 76.2%, 75%, and 72.7%; for R/S ratio in V1 71.4%, 76.2%, 75% and 72.7%; for Q wave in V6 38.1%, 85.7%, 72.7%, and 58%.

Child↗
PubMed1997

[Anesthetic management of a pediatric patient with non-Fukuyama type congenital muscular dystrophy].

Non-Fukuyama type congenital muscular dystrophy (n-FCMD), a subtype of progressive muscular dystrophy (PMD), is a very rare autosomal recessive disorder. N-FCMD is characterized by severe and progressive motor weakness and atrophies of proximal muscles during the infant period. A 9-year-old boy with n-FCMD underwent elective surgery for muscle release around the hip joints bilaterally. As many perioperative complications related with volatile anesthetics and muscle relaxants had been reported in the anesthetic management of PMD, these drugs were thought to be contraindicated in patients with n-FCMD. Because n-FCMD seemed to have very similar pathogenesis with PMD, caudal epidural block was chosen, supplemented with the administration of diazepam, pentazocine and nitrous oxide. The operation and anesthesia were conducted uneventfully. No complications occurred postoperatively.

Adjuvants, Anesthesia↗
PubMed1976

[Systolic time intervals of the left ventricle in neuromuscular diseases].

In 64 patients having neuromuscular disease and in 11 healthy persons, preejection period (PEP), ejection time index (LVETI) and PEP/LVET ratio of the left ventricle were studied by indirect method. PEP was significantly longer, ejection time index was significantly shorter and PEP/LVET ratio was significantly higher in patients with progressive muscular dystrophy than healthy persons. In 75% of patients having this disease LVETI was shortened and only in 30% of them Ecg abnormalities could be detected. These findings are postulated to be due to diffusely decreased contractility of the left ventricular heart muscle in progressive muscular dystrophy.

Adult↗
PubMed1975

Electrocardiographic studies in female carriers of Duchenne muscular dystrophy.

The incidence of electrocardiographic features "typical" for the Duchenne progressive muscular dystrophy (PMD) was investigated in 191 carriers: 136 mothers and 55 daughers. The typical PMD pattern was seen in 6.6% of the mothers, and a pattern similar to that observed in PMD in 2.9%. Among daughters of carriers the percentages were 16.4 and 1.8 respectively. The daughters obviously belong to a much lower age bracket (average 13.3 years) and therefore must be followed for the eventual disappearance of the "juvenile" ECG features, which, in this group, may reduce the incidence of the typical PMD electrocardiograms. The need for more thorough clinical appraisal of the myocardium in carriers is emphasized, especially in those with the "typical" PMD electrocardiograms, with the help of hemodynamic investigations.

Adolescent↗
PubMed1975

Gastrointestinal manifestations of the muscular dystrophies.

Five patients with acute megacolon with varied types of progressive muscular dystrophy are presented. Dysfunction of smooth muscle among patients with muscular dystrophy is reviewed. The extra gastrointestinal roentgen features are summarized. Recognition of the diffuse smooth muscular involvement among patients with muscular dystrophy is stressed for proper diagnosis and patient management.

Adult↗
PubMed1999

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.

Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients. Our analysis shows that nearly all children exhibit weakness or contractures during the first 2 years of life. Early features include diminished foetal movements, neonatal hypotonia and congenital contractures which are of a dynamic nature during childhood. The course of Bethlem myopathy in adult patients is less benign than previously thought. Due to slow but ongoing progression, more than two-thirds of patients over 50 years of age use a wheelchair.

Activities of Daily Living↗
PubMed1999

Muscle degeneration without mechanical injury in sarcoglycan deficiency.

In humans, mutations in the genes encoding components of the dystrophin-glycoprotein complex cause muscular dystrophy. Specifically, primary mutations in the genes encoding alpha-, beta-, gamma-, and delta-sarcoglycan have been identified in humans with limb-girdle muscular dystrophy. Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy. Without gamma-sarcoglycan, beta- and delta-sarcoglycan are unstable at the muscle membrane and alpha-sarcoglycan is severely reduced. The expression and localization of dystrophin, dystroglycan, and laminin-alpha2, a mechanical link between the actin cytoskeleton and the extracellular matrix, appears unaffected by the loss of sarcoglycan. We assessed the functional integrity of this mechanical link and found that isolated muscles lacking gamma-sarcoglycan showed normal resistance to mechanical strain induced by eccentric muscle contraction. Sarcoglycan-deficient muscles also showed normal peak isometric and tetanic force generation. Furthermore, there was no evidence for contraction-induced injury in mice lacking gamma-sarcoglycan that were subjected to an extended, rigorous exercise regimen. These data demonstrate that mechanical weakness and contraction-induced muscle injury are not required for muscle degeneration and the dystrophic process. Thus, a nonmechanical mechanism, perhaps involving some unknown signaling function, likely is responsible for muscular dystrophy where sarcoglycan is deficient.

Age Factors↗
PubMed2005

Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles.

Alpha-sarcoglycan (Sgca) is a transmembrane glycoprotein of the dystrophin complex located at skeletal and cardiac muscle sarcolemma. Defects in the alpha-sarcoglycan gene (Sgca) cause the severe human-type 2D limb girdle muscular dystrophy. Because Sgca-null mice develop progressive muscular dystrophy similar to human disorder they are a valuable animal model for investigating the physiopathology of the disorder. In this study, biochemical and functional properties of fast-twitch extensor digitorum longus (EDL) and slow-twitch soleus muscles of the Sgca-null mice were analyzed. EDL muscle of Sgca-null mice showed twitch and tetanic kinetics comparable with those of wild-type controls. In contrast, soleus muscle showed reduction of twitch half-relaxation time, prolongation of tetanic half-relaxation time, and increase of maximal rate of rise of tetanus. EDL muscle of Sgca-null mice demonstrated a marked reduction of specific twitch and tetanic tensions and a higher resistance to fatigue compared with controls, changes that were not evident in dystrophic soleus. Contrary to EDL fibers, soleus muscle fibers of Sgca-null mice distinctively showed right shift of the pCa-tension (pCa is the negative log of Ca2+ concentration) relationships and reduced sensitivity to caffeine of sarcoplasmic reticulum. Both EDL and soleus muscles showed striking changes in myosin heavy-chain (MHC) isoform composition, whereas EDL showed a larger number of hybrid fibers than soleus. In contrast to the EDL, soleus muscle of Sgca-null mice contained a higher number of regenerating fibers and thus higher levels of embryonic MHC. In conclusion, this study revealed profound distinctive biochemical and physiological modifications in fast- and slow-twitch muscles resulting from alpha-sarcoglycan deficiency.

Animals↗
PubMed1987

[Chemiluminescence of blood plasma and functional status of the erythrocytes of patients with various hereditary neuromuscular diseases].

The authors studied the parameters of osmotic resistance and deformability of erythrocytes in patients with Duchenne's, Bekker's, Erb-Roth's and Landouzy-Déjérine's progressive muscular dystrophies, with Charcot-Marie's spinal amyotrophy, Kugelberg-Welander neural amyotrophy and with Thomsen's myotonia. Along with an increase in the erythrocytic osmotic resistance and deformability patients with different forms of hereditary neuromuscular diseases showed decreased plasma chemiluminescence (PCL) as well as an elevated ability of the blood plasma to inhibit PCL in the model chemiluminescence system in patients with Duchenne's progressive muscular dystrophy and in their close relatives.

Adolescent↗
PubMed1989

Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus.

Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dystrophy), and in serum and muscle of normal controls. CoQ was markedly decreased in serum and muscle of 1 patient with Kearns-Sayre syndrome and treatment with CoQ resulted in a significant clinical improvement. The other 4 patients with Kearns-Sayre syndrome and the patients with ophthalmoplegia plus exhibited normal concentrations of CoQ in serum and muscle. CoQ levels in muscle of patients with progressive muscular dystrophies, myositis or neurogenic atrophies were within the normal range. Concentrations of CoQ in serum and muscle of normal controls were independent of age and showed no sex difference. The data indicate that CoQ deficiency might be the specific cause of mitochondrial encephalomyopathy in 1 patient but it was not the underlying defect common to all cases with Kearns-Sayre syndrome and ophthalmoplegia plus, although the possibility of a focal CoQ deficiency affecting only single muscle fibres cannot be excluded.

Adolescent↗
PubMed1998

Sequential changes in cardiac structure and function in patients with Duchenne type muscular dystrophy: a two-dimensional echocardiographic study.

BACKGROUND: Most patients with progressive muscular dystrophy of the Duchenne type (DMD) die of respiratory failure at approximately 20 years of age. However, some patients with DMD die of heart failure in relatively short periods of time. We investigated the long-term progression of cardiac impairment in patients with DMD by two-dimensional echocardiography. METHODS: We monitored 74 patients for 4 years with two-dimensional echocardiography. Patients were classified into four groups according to the 8-grade Swinyard-Dever system. We also evaluated the echocardiographic features of 22 other patients with DMD with studies performed within 1 year before their deaths. RESULTS: During the 4-year follow-up the left ventricle expanded, and regional left ventricular wall motion abnormalities developed in the posterior wall and apex. Almost all patients had myocardial dysfunction that progressed in parallel with their Swinyard-Dever stage. However, in a few patients who died of congestive heart failure, left ventricular dilation and circumferential left ventricular wall motion were severely impaired. CONCLUSIONS: Myocardial impairment is accelerated in patients with DMD who died of heart failure. Two-dimensional echocardiography is a useful tool for the early diagnosis of left ventricular dysfunction and provides useful information for the treatment of patients with DMD.

Adult↗