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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three cases, a female and two males, with the diagnosis of Ullrich syndrome are presented. Major clinical findings included congenital hypotonia, joint contractures, high-arched palate, prominent calcaneus, scoliosis, hyperhidrosis and normal intelligence. The course was not progressive or even underwent slow improvement. Our cases followed the autosomal recessive pattern of inheritance. Muscle enzymes were all within the normal ranges. EMG showed findings that were consistent with a chronic myogenic pattern. Muscle biopsy revealed variation in the size of muscle fiber diameters and large increase of the connective tissue without evidence of dystrophic changes. We consider Ullrich syndrome as a nonspecific muscle disturbance of unexplained nature, related, but not identical, to both congenital muscular dystrophy and myogenic type of arthrogryposis multiplex congenita.
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PMID:[Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity]. 721 71

Four patients with typical signs of congenital muscular dystrophy (C.M.D.), as described in the literature, are reported. In two young sisters born from consanguineous parents the presenting signs were severe congenital hypotonia in one and hypotonia with arthrogryposis in the other. The two other cases were adult patients with a long standing disease, the onset haring been marked by a transient neonatal hypotonia in one and by a congenital torticollis in the other. All 4 patients had progressively increasing muscle retractions, with absent reflexes in three. C.P.K. was moderately increased in all patients. Electromyography demonstrated myopathic abnormalities in 3 cases, associated in 2 cases with misleading pseudo-neurogenic signs. MUscle biopsy showed non specific changes compatible with muscular dystrophy: fibrosis and/or fat involution was marked in all cases, while necrosis of fibers was rarely observed. Histoenzymology and morphometry confirmed the absence of lesion specificity and their results were variable from case to case. A review of 92 published cases demonstrated that the course of the disease is very variable. A fatal outcome occurs in 15% of cases, while the affection becomes worse or remains stable with about the same frequency. A progressive worsening of muscle retractions is a characteristic finding in C.M.D. Genetically, most cases are of recessive autosomic. The current nosology of C.M.D. is probably inadequate, the clinical picture including cases that are likely to be due to different mechanisms that 2 present methods of investigation cannot demonstrate.
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PMID:[Congenital muscular dystrophy]. 725 65

We report a 3 1/2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the basis of the age of onset, a myopathic EMG, an elevated creatine kinase and a dystrophic muscle biopsy. Subsequently, dystrophin immunocytochemistry and immunoblot analysis showed complete absence of dystrophin. We suggest that male cases of CMD should undergo dystrophin analysis, if there is calf hypertrophy and markedly elevated CK (> 2000 U/l).
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PMID:Dystrophinopathy presenting as congenital muscular dystrophy. 798 96

We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.
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PMID:Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. 811 Apr 18

Congenital muscular dystrophy (CMD) is a concept applied to infants showing muscular weakness and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy. Patients with Fukuyama-type CMD (FCMD), characterized by progressive muscular dystrophy, mental retardation and occasionally, convulsions, are more frequently seen in Japan than those with non-Fukuyama type CMD (NFCMD). FCMD has been regarded as a distinct clinical and pathological entity, although the nosologic status of CMD is still controversial. A 24-year-old man had exhibited hypotonia and weakness at birth and delay in early development. During childhood, his muscular weakness improved, and he rode a bicycle and enjoyed skiing. However, his strength began to deteriorate at the age of 19 years. Neurological examination on admission revealed prominent muscular wasting and weakness, predominantly in the proximal limbs. He had ocular involvement (corneal opacity and slow saccades), sensorineural deafness, and a high-arched palate, saddle nose and funnel chest as anomalous conditions. Serum CK was moderately elevated and EMG showed myogenic patterns. A muscle biopsy specimen of the left biceps brachii was dystrophic, showing increased variation in fiber size with fibrous tissue proliferation, an increased number of centralized nuclei, fiber splitting and degenerating/regenerating fibers. Those findings were compatible with those seen in NFCMD. In Japan, only one patient with NFCMD who was followed to adulthood has been reported. This patient's symptoms progressed very slowly. The present patient's course of illness was stable during childhood but progressive in early adulthood. It suggests heterogeneous clinical expression of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness]. 837 Feb 3

Structural differences between noncorticotropic ACTH peptides result in marked differences in their effects on regenerating nerve and muscle in rats. The ACTH/MSH(4-10) analog BIM 22015 was administered IP in dosages from 0.1 to 40 micrograms/kg/48 h for 5, 7, or 11 days after peroneal nerve crush, and characteristics of extensor digitorum longus (EDL) muscle were studied and compared with ACTH/MSH(4-10). Eleven days postcrush 40 micrograms/kg BIM 22015 increases rate of development of tetanic tension and amplitude of contraction of indirectly stimulated EDL. In a 21-day study, reinnervated BIM 22015-treated muscles retain tetanic strength, whereas ACTH/MSH(4-10)-treated muscles are significantly weakened. Both peptides show neurotrophic characteristics in their stimulation of endplate nerve terminal branching. However, in contrast to ACTH/MSH(4-10), BIM 22015 also prevents denervation atrophy of the EDL. This dual neurotrophic and myotrophic role for BIM 22015 accords it a clinical potential for degenerative myopathies of either pure or mixed origin, such as muscular dystrophy, infantile spinal atrophy, and hypotonia.
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PMID:ACTH/MSH(4-10) analog BIM 22015 aids regeneration via neurotrophic and myotrophic attributes. 838 88

Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There as no involvement of the eyes. Neuropathological examination of the brain of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventral pons, and secondary loss of myelin in the cerebral and cerebellar subcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinated fibers.
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PMID:Congenital muscular dystrophy and severe central nervous system atrophy in two siblings. 861 88

We studied three new cases of congenital muscular dystrophy (CMD) with homogeneous clinical and laboratory features, represented by congenital muscle hypotonia and weakness, early contractures, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS. Merosin, the laminin isoform that contains the alpha 2 heavy chain, was absent in muscle fibers of all the patients by immunohistochemistry and by immunoblot. By electron microscopy, we found a severe disruption of muscle fiber basal lamina, but not of blood vessel basal lamina, which contains the laminin alpha 1 heavy chain isoform. This disruption may play a key role in the degeneration of muscle fibers and in the abnormal proliferation of connective tissue seen in CMD.
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PMID:Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 862 82

A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete in two cases. An overexpression of the laminin A chain was seen in these biopsies, while B1 and B2 chains were normally expressed. Comparison of the clinical data with a series of 18 "merosin-non deficient" cases showed that the "merosin-deficient" cases were forming a more homogenous group than the "non-deficient" one. Hypotonia, contractures, motor development delay were generally more severe in the "merosin-deficient" series of cases. Moreover, white matter alterations were seen in most cases explored by MRI or scan imaging. A genetic linkage with a 6q2 locus, corresponding to the M chain gene localization, was found in a panel of informative families from French and Turkish origin with "merosin deficient" CMD. "Merosin non-deficient" families did not map on this locus. So, the "merosin-deficient" CMD can be considered as a peculiar entity within the group of Congenital Muscular Dystrophies.
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PMID:[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]. 872 91

We report a female infant with non-Fukuyama-type congenital muscular dystrophy with merosin deficiency. She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine kinase concentration. Her motor developmental milestones were markedly delayed; however, her intellectual development was normal. Although cranial computed tomography (CT) at 3 months of age was normal, subsequent CT at 16 months of age demonstrated diffuse, abnormal white matter lucencies. Muscle biopsy findings at 16 months of age were compatible with those of congenital muscular dystrophy. In addition, no muscle fibers were immunostained by the merosin antibody. The patient died of pneumonia at 23 months of age. These clinical symptoms and CT findings are similar to those described in patients with merosin-negative congenital muscular dystrophy in European countries.
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PMID:Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. 873 5


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