Cases reported "Muscular Dystrophies"

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1/19. Rigid spine syndrome. Two case-reports.

    Rigid spine syndrome is characterized by massive spinal rigidity, usually most marked in the cervical region. Stiffness of the peripheral joints is sometimes present. We report two cases. Patient 1 was a 12-year-old boy diagnosed at three years of age with Duchenne's muscular dystrophy because of delayed onset of walking. contracture of the Achilles tendons, flexion contracture of the elbows, and loss of motion of the cervical spine were the main findings during the current evaluation. Radiographs of the affected joints were normal. An electrocardiogram showed an incomplete left bundle branch block. Muscle enzyme activities were moderately elevated. A myopathic pattern was seen on the electromyogram. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. Patient 2 was a 39-year-old man with a five-year history of isolated rigidity of the cervical spine thought to be due to a spondylarthropathy. Extension was the only movement possible at the cervical spine. The peripheral joints showed no motion range limitation. Findings were normal from radiographs of the spine and sacroiliac joints, an erythrocyte sedimentation rate determination, an electromyogram, and muscle enzyme activity assays. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. DISCUSSION: Rigid spine syndrome is rare in rheumatological practice and can simulate a number of other muscle and joint diseases. Peri- and endomysial fibrosis may be strongly suggestive, although nonpathognomonic. Involvement of the heart governs the prognosis.
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2/19. Congenital muscular dystrophy.

    Congenital muscular dystrophy (CMD) is a rare heterogeneous disease found in the oriental population, especially the occidental type of CMD. We report a case of a one-year-old infant who presented with early onset hypotonia, muscular weakness, delayed motor development and normal intelligence. A muscle biopsy revealed dystrophic muscle fibers. A high creatine kinase (CK) level, mostly of the MM type, was also noted. Further study of brain images showed hyperintense lesions in the white matter area. The patient showed the clinical and laboratory findings characteristic of CMD, more likely to be of the occidental type. Further genetic or histopathologic studies, especially merosin investigation, are suggested for improved classification and prognosis prediction.
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3/19. Successful heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy.

    Inherited myopathies in patients with secondary end-stage cardiomyopathies have always been considered a relative contraindication for cardiac transplantation. High operative risk related to muscle impairment and potential graft involvement secondary to the underlying myopathy have been the two main reasons implicated in the poor prognosis. OBJECTIVE: The aim of this study was to evaluate the outcome in patients who underwent cardiac transplantation in our hospital due to end-stage cardiomyopathy secondary to inherited myopathies. methods: Among 311 patients who underwent heart transplantation in our hospital, five (2%) had end-stage cardiomyopathies related to inherited myopathies. Four patients had muscular dystrophy (three Becker's muscular dystrophy and one hips-dystrophy) and the fifth desminopathy. In one patient cardiomyopathy was the initial manifestation of the disease. Mean age at the time of transplantation was 38.6 years (range from 24 to 55). The mean follow-up after transplantation was 57.4 months (range from 13 to 128). The intraoperative and postoperative course of these individuals did not show higher complication rates than other patients. All recipients experienced successful rehabilitation; no evidence of graft dysfunction has been detected during follow-up. All of them are alive with a good performance status. CONCLUSIONS: In our experience, patients who underwent heart transplantation due to end-stage cardiomyopathy secondary to inherited myopathy with only a mild degree of muscle impairment did not display higher postoperative nor long-term complications compared to other recipients.
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4/19. Atrial paralysis in a patient with Emery-Dreifuss muscular dystrophy.

    Emery-Dreifuss disease is a benign X-linked muscular dystrophy characterized by a distinct pattern of muscle weakness, which is of insidious onset and slow progression. It is associated with atrial paralysis that results in sudden death in early adulthood if left untreated. The authors report the documentation of electrical and mechanical silence confined to the atria in a patient with this disease. electrocardiography and electrophysiological study document the absence of electrical atrial activity, and inability to pace the atria. Hemodynamic studies demonstrate the absence of A waves, and angiography revealed immobility of the atria. This patient has done well following the institution of permanent ventricular pacing. His brother, who also had muscular dystrophy, died a sudden cardiac death at the age of 29 after refusing medical intervention. Emery-Dreifuss muscular dystrophy is particularly worthy of recognition because of the preventable occurrence of sudden death in young patients with an otherwise excellent prognosis. Permanent ventricular pacing is indicated.
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5/19. Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy.

    Two patients with Xp21 muscular dystrophy Becker type showed absence of dystrophin in muscle biopsy tested with 4 antibodies (polyclonal anti-60 kDa, monoclonal against the rod domain, the C-terminus and the N-terminus). dna analysis did not detect any deletion in one patient and demonstrated deletion of exons 3-7 in the other. The cases represent an exception to the strict correlation between the dystrophin pattern in muscle biopsy and the clinical course of the disease: in fact both the patients are still walking at 14 and 15 years respectively. The possibility of similar cases must be considered not only in the prognosis of Xp21 muscular dystrophy but the more so in the evaluation of therapeutical trials.
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6/19. Congenital muscular dystrophy presenting with respiratory failure.

    Respiratory failure is an unusual initial manifestation of congenital muscular dystrophy. The authors describe a case of congenital muscular dystrophy in a patient presenting with rhabdomyolysis at birth. Despite an initially poor prognosis, aggressive respiratory therapy during the neonatal period permitted normal subsequent development. The muscular dystrophy predominantly involved the respiratory muscles.
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7/19. Cardiac involvement in Emery-Dreifuss muscular dystrophy.

    Emery-Dreifuss muscular dystrophy (EDMD) is a common form of muscular dystrophy frequently involving cardiac muscle, thus leading to dilated cardiomyopathy. Clinical outcome and prognosis is frequently determined by the involvement of the cardiac conduction system causing symptomatic bradyarrhythmias, as well as tachyarrhythmias and, if untreated, frequent sudden cardiac death. Typical features of the cardiac involvement of EDMD are presented, caused by a novel missense mutation in the splice receptor sequence of intron 6 of the LMNA gene on chromosome 1, encoding for the lamin A/C gene, consistent with the autosomal dominant form of EDMD.
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8/19. Structure and function of masticatory muscles in a case of muscular dystrophy.

    Histologic examination of muscle biopsies and functional examination comprising electromyography and force measurements in a 19-yr-old boy with muscular dystrophy showed different wasting patterns of mandibular elevator and depressor muscles. Pronounced histopathologic changes were present in the masseter muscle, whereas pathologic findings in the anterior digastric muscle were limited to increased number of cells in slightly enlarged interfiber connective tissue. The masticatory pattern was distorted, and strength of mandibular elevator muscles was less than one third of the norm, whereas depressor strength corresponded more to reference values. This difference of muscular wasting might be caused by protective enzymes in the digastric muscle and/or functionally induced damage of the masseter. As affection from muscular dystrophy may vary greatly between the masticatory muscles, structural and functional examination should be used routinely to clarify prognosis before initiation of treatment procedures.
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9/19. Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome).

    Two children with the features of the "Muscle, eye and brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the walker-warburg syndrome discussed. The association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.
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10/19. Infantile facioscapulohumeral muscular dystrophy: new observations.

    Clinical, electrodiagnostic, and biopsy findings in a family with infantile facioscapulohumeral muscular dystrophy are reported. Four of eight family members having the disorder, all with onset in infancy, developed severe weakness leading to death in adolescence. The clinical course and prognosis of infantile facioscapulohumeral muscular dystrophy may, therefore, be as devastating as that of Duchenne muscular dystrophy. The unusual infantile presentation and high mortality in our affected family members suggest that the gene coding for this disorder may be different from that responsible for conventional facioscapulohumeral muscular dystrophy.
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