Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Determination of the creatine kinase isoenzyme pattern in 62 biopsy samples obtained from patients with neuromuscular disease revealed changes mainly in Duchenne muscular dystrophy. The BB isoenzyme was detected in 10 out of 17 cases with Duchenne muscular dystrophy and the relative amount of MB+BB isoenzyme was significantly increased in this group (P less than 0.005). In serum the MB isoenzyme was detected in all 28 cases with progressive muscular dystrophy and frequently also in other neuromuscular diseases. Among 152 control samples the MB isoenzyme was detected only in 2 cases. It is suggested that the finding of MB isoenzyme in the serum with normal or only slightly elevated total CK activity may be a further proof of neuromuscular disorder, but the finding is not specific for any particular disease.
 ...
PMID:Creatine kinase isoenzymes in neuromuscular diseases. 97 5

Two half-sisters aged 14 and 18 years are described with a rigid spine syndrome as the cardinal clinical feature of an autosomal dominant neuromuscular disorder. Ten years previously, a diagnosis of multicore disease had been made from the clinical signs and muscle biopsy findings. Long term follow-up revealed a non-specific muscular dystrophy with axial predominance and a rigid spine in the younger girl; the older sister presented at the age of 18 with a rigid spine as the only myopathic sign. Computed tomography of the muscles showed severe involvement of the paraspinal musculature, in contrast with either less or no involvement of the other muscles.
 ...
PMID:The rigid spine syndrome in two sisters. 335 13

A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central nervous system involvement, myopia and lethal cardiomyopathy. The possibility of cardiac transplant as life-saving therapy is suggested.
 ...
PMID:Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. 380 20

We studied the histochemical staining and biochemical activity of AMP deaminase in biopsied muscle in Becker-type muscular dystrophy (BMD), Fukuyama-type congenital muscular dystrophy (FCMD), Duchenne-type muscular dystrophy (DMD), Werdnig-Hoffmann disease (WH) in order to elucidate the change of AMP deaminase activity in muscle with neuromuscular disorders in childhood. The intensity of AMP deaminase staining did not decrease in BMD with mild pathologic change, but in DMD, FCMD and WH it decreased in parallel with the severity of the pathologic change. The biochemical activity of AMP deaminase did not decrease in muscle with mild pathologic change in patients with DMD and tended to decrease according to the progress of the disease. The activity of AMP deaminase in muscle of patients with FCMD and WH which showed severe pathologic change was remarkably low. It was demonstrated that the decrease in the activity of AMP deaminase was related to the intensity of pathologic change rather than diagnosis of a neuromuscular disorder.
 ...
PMID:AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies. 380 28

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.
 ...
PMID:Congenital muscular dystrophy and severe central nervous system atrophy in two siblings. 861 88

Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder transmitted in an autosomal dominant fashion. FSHD has been located by linkage analysis in the most distal part of chromosome 4q. The disease is associated with deletions within a 3.2 kb tandem repeat sequence, D4Z4. We have studied a family in which an abnormal chromosome 4 segregates through three generations in phenotypically normal subjects. This chromosome is the derivative of a (4;D or G) (q35;p12) translocation. Molecular analysis of the region 4q35 showed the absence of the segment ranging from the telomere to locus D4F104S1. Probe p13E-11 (D4F104S1), which detects polymorphic EcoRI fragments containing D4Z4, in Southern blot analysis showed only one allele in the carriers of the abnormal chromosome 4. Probe p13E-11 EcoRI fragments are contained in the subtelomeric region of 4q and their rearrangements associated with FSHD suggested that the gene responsible for the muscular dystrophy could be subject to a position effect variegation (PEV) because of its proximity to subtelomeric heterochromatin. The absence of the 4q telomeric region in our phenotypically normal cases indicates that haploinsufficiency of the region containing D4Z4 does not cause FSHD.
 ...
PMID:Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. 873 44

Merosin, also called laminin-2, is an isoform of laminin comprised of the alpha 2, beta 1 and gamma 1 chains. Deficiency of merosin alpha 2 chain was recently identified as the primary cause of the classical form of congenital muscular dystrophy (CMD), an autosomal recessive neuromuscular disorder characterised by muscular dystrophy and brain white matter abnormalities. Interestingly, merosin-deficient CMD and its animal model dy mouse are also accompanied by dysmyelination of peripheral motor nerves. In peripheral nerve, merosin is expressed in the endoneurium surrounding the Schwann cell/myelin sheath, while the putative merosin receptors dystroglycan and alpha 6 beta 4 integrin are expressed in the outer membrane of Schwann cell/myelin sheath. Together with the well known fact that the deposition of laminin in the basement membrane is essential for Schwann cell myelination, these findings indicate that the interaction of merosin with dystroglycan and/or alpha 6 beta 4 integrin plays an important role in peripheral myelinogenesis and that the disturbance of this interaction leads to peripheral dysmyelination in merosin deficiency. The clinical significance of peripheral dysmyelination in merosin deficiency is also discussed.
 ...
PMID:Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse. 913 44

myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and myotonia, which can affect both mother and child. Complications may arise during pregnancy, delivery, including anaesthetic problems, and in the neonatal period. During pregnancy hydramnion can be a first sign of the disease leading to premature labor and also muscle weakness and myotonia can aggravate complicating the course of delivery. The affected neonate may display severe hypotonia, facial diplegia and respiratory distress. The clinical diagnosis can be confirmed by direct DNA analysis in serum and in chorionvillus biopsy material. In this case report two sisters with myotonic dystrophy are described, their pregnancies, deliveries and the outcome of their affected babies.
 ...
PMID:Myotonic dystrophy in pregnancy: a report of two cases within one family. 922 95

Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. Affected patients usually present in early adolescence with scapulo-peroneal muscle weakness and wasting, and contractures of the tendo Achilles, elbows and paraspinal muscles, resulting in spine rigidity. We present here a case of Emery-Dreifuss muscular dystrophy with an unusually severe, early presentation. He presented at 2.5 years with predominantly proximal weakness and mild equinovarus deformity of the right foot. Serum creatine kinase activity was elevated (1994 IU/I) and a muscle biopsy at the age of 4 years showed marked dystrophic abnormalities. Normal expression of dystrophin, and no detectable deletion in the corresponding gene, excluded a diagnosis of Duchenne muscular dystrophy. Similarly, normal expression of alpha-sarcoglycan made a limb-girdle muscular dystrophy caused by a defect in a sarcoglycan unlikely. Several years later, examination of the proband's maternal cousin, aged 14 years, suggested Emery-Dreifuss muscular dystrophy. This was confirmed in both affected boys by the absence of emerin in muscle and leucocytes, and identification of a mutation in exon 4 of the STA gene. Carrier status in both mothers was also confirmed by mutational and protein analysis. Emery-Dreifuss muscular dystrophy should therefore be considered in the differential diagnosis of cases of early onset muscular dystrophy, even in the absence of the typical clinical features.
 ...
PMID:Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. 960 59

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious onset and progressive course. The disease has a frequency of about 1 in 20,000 and is transmitted in an autosomal dominant fashion with almost complete penetrance. Deletion of an integral number of tandemly arrayed 3.3-kb repeat units (D4Z4) on chromosome 4q35 is associated with FSHD but otherwise the molecular basis of the disease and its pathophysiology remain obscure. Comparison of mRNA populations between appropriate cell types can facilitate identification of genes relevant to a particular biological or pathological process. In this report, we have compared mRNA populations of FSHD and normal muscle. Unexpectedly, the dystrophic muscle displayed profound alterations in gene expression characterized by severe underexpression or overexpression of specific mRNAs. Intriguingly, many of the deregulated mRNAs are muscle specific. Our results suggest that a global misregulation of gene expression is the underlying basis for FSHD, distinguishing it from other forms of muscular dystrophy. The experimental approach used here is applicable to any genetic disorder whose pathogenic mechanism is incompletely understood.
 ...
PMID:Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. 1053 77


1 2 3 4 5 6 Next >>