Cases reported "Muscular Dystrophies"

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1/9. Muscular dystrophy in young girls.

    Muscular dystrophy occurred in four girls. In only one of these was the syndrome both proximal and with pseudo-hypertrophy, thus clinically resembling the x-linked Duchenne type of the disease. The evidence for a primary dystrophic process existing in the four individuals is based on the laboratory findings of very high serum creatine kinase levels, myopathic E.M.G. appearances and muscle biopsies. However, each case is clinically different (one is proximal with contractures, another limb girdle with facial involvement and the fourth is distal) and worthy of documentation. The recent demonstration of a neurogenic basis for several myopathies previously considered to be dystrophic in nature has not caused us to revise our view that true muscular dystrophy does occur in girls but that the "Duchenne-like" type is rare.
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ranking = 1
keywords = x-linked
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2/9. Dilated cardiomyopathy and successful cardiac transplantation in Becker's muscular distrophy. Follow-up after two years.

    A 23 year-old man with x-linked Becker type muscular distrophy underwent cardiac transplantation because of dilated cardiomyopathy complicated by terminal heart failure. The muscular functional impairment was mild and slowly progressive, whereas the cardiac disease was severe and rapidly progressive. The ventricular cavities of the explanted heart were hugely dilated and the left ventricular wall thickness was moderately increased. Microscopically, a diffuse hypertrophy of the myocardial fibers and a widespread interstitial collagenous fibrosis were present. At a follow-up, two years after treatment, the patient is alive and fairly well; the degree of his muscular disability is substantially unchanged.
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ranking = 1
keywords = x-linked
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3/9. Clinical and genetic studies of muscular dystrophy in young girls.

    During the years 1971-81, we treated 7 girls with clinical features suggestive of Duchenne dystrophy. muscle weakness developed at 1.5 or at 5-8 years and progressed rapidly. Two girls were in wheel-chairs in their teens. Muscle atrophy began in the proximal parts of the lower extremities and pseudohypertrophy of the calf occurred in all patients. serum creatine phosphokinase (CPK) activity was moderately to highly elevated in all cases and EMG showed a moderate to marked myopathic pattern. Chromosomal studies showed normal finding in the five examined. Mental retardation (IQ 37-73) was present in four. consanguinity was present in 3 out of the 7 cases. Two mothers showed elevated levels of CPK and myopathic patterns on EMG. In addition, one mother had slight muscle weakness at the age of 42 and another had prominent pseudohypertrophy of the calf. sex-linked recessive inheritance might be considered here, because carriers of autosomal recessive type never showed elevated levels of CPK or mild myopathic symptoms. The other five of our seven might be cases of autosomal recessive inheritance, because the mothers had normal serum CPK levels and in 2 families there was a consanguinity.
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keywords = x-linked
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4/9. Myopathy limited to the quadriceps and gastrocnemius muscles occurring in three brothers.

    This is a report of three cases of myopathy limited to the quadriceps and gastrocnemius muscles, occurring in the male offspring of the same mother but two different fathers. They have many similarities to a previously described clinical syndrome called quadriceps-confined myopathy. The pedigree demonstrates an apparent sex-linked recessive condition which has not been demonstrated previously. Information gained from a review of the literature is related to these three cases. It is suggested that these cases are part of a poorly defined clinical entity and that a new classification of quadriceps-gastrocnemius muscular dystrophy be introduced.
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ranking = 1
keywords = x-linked
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5/9. atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy.

    This report describes a family showing muscular dystrophy and atrioventricular block with an x-linked hereditary transmission. Among a known pedigree of 101 family members, 12 males were found to have skeletal muscle involvement and six needed pacemakers around age 30 years. Unlike the x-linked muscular dystrophies of Duchenne and of Becker, the predominant skeletal involvement was in humeral muscles, was usually very mild, and did not produce incapacitation. Cardiac involvement consisted of various atrial arrhythmias and atrioventricular block. The few sporadic reports of other families that describe the same disease under different names are briefly reviewed. Recognition of this subtle muscular dystrophy is important for early detection of incipient complete atrioventricular block to prevent fatal complications by pacemaker insertion.
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ranking = 2
keywords = x-linked
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6/9. Muscular dystrophy in six young girls.

    Clinical and genetic studies were made on progressive muscular dystrophy in six young girls. No chromosome abnormality was observed in these patients. The pedigree of one case implied a sex-linked recessive trait, and clinical features were identical with Duchenne dystrophy. The clinical manifestations of two sisters in another family were less severe than in their brother with Duchenne dystrophy. The clinical differences among these three cases are well explained by the Lyon hypothesis. Three other cases were compatible with childhood muscular dystrophy of autosomal recessive inheritance.
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ranking = 1
keywords = x-linked
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7/9. Manifesting carrier of x-linked Duchenne muscular dystrophy.

    The authors have investigated the uncommon occurrence of a boy affected with Duchenne muscular dystrophy (DMD) whose mother showed myopathic features in the clinical history, EMG, biochemical tests and muscle biopsy. This study suggests that the patient's mother is a manifesting carrier of X-linked DMD with clinical, neurophysiological, biochemical and histological findings of X-linked DMD with an almost complete inactivation of the paternal X-chromosome (lyonization).
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ranking = 4
keywords = x-linked
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8/9. Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.

    Clinical, electromyographic, and muscle biopsy findings in the two largest known families with Emery-Dreifuss humeroperoneal muscular dystrophy indicate that this is an X-linked recessive muscle disease with stereotyped clinical manifestations but with variable pathological and electromyographic characteristics. elbow contractures, involvement of humeral muscles, hyporeflexia, and abnormal electrocardiograms are present in our patients. The disorder is associated with a potentially lethal cardiac arrhythmia that should be managed by pacemaker insertion. The skeletal muscle disease is slowly progressive and is usually not life threatening. Muscle biopsy commonly shows type I fiber atrophy. electromyography usually indicates myopathy, though the classic findings of myopathy may not be present in every muscle.
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ranking = 4
keywords = x-linked
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9/9. First-trimester prenatal diagnosis in twin pregnancies.

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis confirmed the error. Selective feticide of the affected fetus was performed. When first-trimester prenatal diagnosis is offered in dichorionic twin pregnancies, confirmation through molecular genetic testing can confirm that villi have been obtained from different fetuses. All parties must be aware that additional invasive diagnostic procedures in the second trimester may be required in cases of doubt.
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ranking = 1
keywords = x-linked
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