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PubMed1978

Myoglobinemia in children with progressive muscular dystrophy.

Out of 13 patients with congenital muscular dystrophy myoglobinemia was proven in four, and nine of 13 cases of Duchenne dystrophy showed myoglobinemia by counterimmunoelectrophoretic technique. Serum myoglobin was positive in 14 out of 15 patients whose serum creatinine phosphokinase (CPK) levels rose above 2500 units, whereas positive myoglobinemia was obtained in only one patient in eleven with lower CPK levels. All the myoglobinemic patients were less than 5 years of age in the case of congenital muscular dystrophy and less than 9 years of age in the case of Duchenne dystrophy. Thus, the leakage of myoglobin into the serum from the damaged muscle seemed closely correlated to the age of the patients and level of serum CPK, but not to the type of disease.

Child↗
PubMed1976

Progressive muscular dystrophy. Functional improvement after a renal allograft.

From his first years a child showed signs of a primary and rapidly developing muscular dystrophy. The diagnosis was established by an increased serum CK level and by electromyography and muscle biopsies. Afterwards this child developed a severe renal deficiency which needed binephrectomy and the graft of a normal kidney. During the few months just after the graft, the disability increased and the patient could not stand upright by himself. Later on, he gradually became able to walk on his own and without bracing. He could climb stairs and stand up from the floor. The CK activity returned to normal. At present, 4 years after the graft (the patient is 16 years), the improvement of his functional abilities is constant, although the CK activity has increased again. In this article we give evidence that this patient suffers from a primary muscular dystrophy. We discuss the type of dystrophy concerned. We believe that it is the graft of a normal kidney which was responsible for the improvement observed, and not the physiotherapy or the drugs administered after the graft.

Adolescent↗
PubMed1978

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies.

PK and CPK have been determined in the serum from 208 individuals including 70 normal controls (61 adults and 9 children) and 138 patients with a variety of neuromuscular disorders. In adult controls the mean activity (+/- SE) for PK is 1.2 +/- 0.05 mumol/ml/h. In normal children PK activity was about twice as high as in normal adults and decreases with increasing age. In 26 patients with Duchenne dystrophy the range of serum PK was 4.0-150.4 and in 17 individuals with the Becker type, 3.0 to 148.7. All had elevated PK and CPK levels. Eighteen of 20 patients with the facio-scapulo-humeral (FSH) from of muscular dystrophy had increased PK while only 9 had elevated CPK. Regression analyses have shown an inverse correlation between PK levels and age (or degree of disability in DMD). Kinetic and electrophoretic studies indicate that the PK isozyme found in the serum from affected patients and from heterozygotes for the DMD gene is mainly the M1 type PK, which is the only PK isozyme found in skeletal muscle and brain and the major component from myocardium.

Adolescent↗
PubMed1980

An electron-microscopic study of the T-system in progressive muscular dystrophy (Duchenne) using lanthanum.

Muscle biopsies in 4 cases of Duchenne muscular dystrophy and two normal controls were examined by electron microscopy using lanthanum as a tracer for assessment of the T-system. Lanthanum was localized in the extracellular spaces, the basement membranes, intercellular spaces between muscle fibers and satellite cells, subsarcolemmal vesicles (caveola), motor end-plate, and the T-system in the controls. The T-system was sometimes connected with the caveolae, and was located at right angles to the myofibrils in the controls. In Duchenne muscular dystrophy, the T-system showed irregularities of position, tangle formations and dilatation of the diameters when observed using lanthanum as a tracer, even in muscle fibers which under light- and electron-microscopic examinations did not show any changes. Structure of the triad was destroyed and lanthanun was localized in the sarcoplasmic reticulum (SR). The changes of the T-system and triad seemed to play an important role in the high level of creatine phosphokinase (CPK) in the serum of Duchenne muscular dystrophy patients who do not show any clinical symptoms. Because of the destruction of the triad, CPK will easily flow out to the exterior of muscle fibers via the T-system.

Child↗
PubMed1992

Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis.

We present two cases of autosomal dominant limb girdle muscular dystrophy in a father and son. Both presented in childhood with a classical Becker muscular dystrophy phenotype. The father had initially been informed that he would not have affected children. After the diagnosis of muscular dystrophy in the son, immunoblot analysis was performed on muscle and revealed normal dystrophin. The polymerase chain reaction did not show any deletions in the dystrophin gene, and the father's dystrophin gene was not passed to his son. These cases demonstrate that autosomal dominant muscular dystrophy may present in childhood, and that dystrophin and molecular genetic analyses should be performed when considering the diagnosis of childhood muscular dystrophy, even in the presence of a classical phenotype.

Child↗