Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Duchenne muscular dystrophy (DMD) is a disease of progressive muscular weakness and wasting. This study is designed to evaluate the muscle strength and functional performance of patients with DMD during the natural progression of this disease. This study comprises a sample of 35 subjects who were confirmed to have DMD. Manual muscle testing (MMT) was used to evaluate muscle strength, the Brooke functional scale to rate the motor function of the upper extremity, and the Vignos functional scale to rate the motor function of the lower limbs. The results showed a significant positive correlation between age and the decrement in strength, i.e. a one year increment in age led to a 3.9% decrease in the average muscle strength. The strength loss always occurred in a typical pattern proceeding from the lower extremities to the upper extremities, and from the proximal to the distal parts. There was a significant negative correlation between muscle strength and both the Brooke and Vignos functional scales. These findings may suggest that decreased muscle strength results in a progressive worsening of the functional performance of the extremities. In addition, the Brooke scale is significantly correlated with the Vignos scale through the natural course of DMD. The high percentage (90.5%) of subjects without the long leg braces needed for ambulation indicates an inadequate rehabilitation care for DMD patients in this country.
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PMID:[The strength and functional performance of patients with Duchenne muscular dystrophy based on natural history]. 129 40

Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. The dystrophin gene responsible for the disease is the largest human gene ever cloned and is prone to gross gene deletion in two "hot spot" regions. Using nine pairs of oligonucleotide primers deduced from the two regions, we have screened 23 unrelated Chinese DMD/BMD patients by multiplex polymerase chain reaction. Nine (39%) patients were noted to have gene deletion, one in the 5' terminus and eight in the distal half of the gene. The incidence is similar to that reported in other large series mainly on Caucasian patients. The "hot-spot" regions also seem to be present in Chinese patients. Multiplex gene amplification for deletion analysis is useful in the diagnosis of patients with neuromuscular diseases and is an important aid in the prenatal diagnosis and genetic counseling of at-risk families.
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PMID:Dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients via multiplex DNA amplification. 136 73

An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. DNA analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.
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PMID:An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA. 228 21

Duchenne muscular dystrophy (DMD) is a human X-linked biochemical defect resulting in the progressive wasting of skeletal muscle of affected individuals. It is the most common and is considered to be the most devastating of the muscular dystrophies, affecting about 1 in 3,500 live-born males. The gene that, when defective, results in this disorder was recently isolated. Using the cloned complementary DNA sequences corresponding to the DMD gene, antibodies have been produced that react with a protein species of relative molecular mass (Mr) approximately 400,000 (400K) which was absent in two DMD-affected individuals and in mdx mice. This protein species is called dystrophin because of its identification by molecular-genetic analysis of affected individuals. Here we show that dystrophin is associated with the triadic junctions in skeletal muscle, and is therefore probably involved with Ca2+ homoeostasis. We also show that the approximately 450K ryanodine receptor/sarcoplasmic reticulum Ca2+ channel, which has the large size and subcellular distribution characteristics of dystrophin, is an immunologically distinct protein species.
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PMID:Subcellular fractionation of dystrophin to the triads of skeletal muscle. 244 3

Duchenne muscular dystrophy (DMD) and its less severe allele Becker muscular dystrophy (BMD) are progressive muscle-wasting disorders of children. DMD is characterized by rapid loss of muscle fibres and the ensuing weakness results in lost mobility and eventual premature death. Despite extensive research for many years, the basic underlying biochemical defect has remained elusive. Here I try to demonstrate how the powerful techniques of molecular genetics can be used to gain a further understanding of this particular disorder and how, in principle, the techniques can be applied to the other 3000 human genetic disorders that are so far uncharacterized. Once the chromosomal map position of DMD was established, the locus that was being disrupted by mutation could be identified and the encoded protein product predicted from the nucleotide sequence of the RNA transcript. This has led to the identification of a previously uncharacterized protein named dystrophin. As the normal function of dystrophin is determined, more accurate clinical diagnosis of DMD and BMD should result and potential approaches to therapy should be designed.
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PMID:The Wellcome lecture, 1988. Muscular dystrophy: a time of hope. 256 97

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder affecting 1 in 3500 males. A less severe and less common form is Becker muscular dystrophy (BMD). Only recently has the basic defect in DMD and BMD been recognized: a region on the human X chromosome is disrupted by mutation. The primary transcript of the region was detected, and cDNA clones were isolated that encompassed the entire transcript. The sequence of the encoded protein was predicted from cDNA nucleotide sequence, portions of the protein were overexpressed in bacterial cells, and these peptides were used to generate immunoreagents against the DMD gene protein, dystrophin. The molecular genetic identification of this protein via analysis of mutations found in patients' material has led to a means of improved diagnosis of DMD/BMD in affected individuals and their family members. The severely affected DMD patients have little or no detectable dystrophin in their muscle, whereas BMD patients have nearly normal concentrations of an altered form of dystrophin; patients with all other neuromuscular diseases have normal dystrophin.
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PMID:Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. 266 32

Fibre type differentiation was carried out on 20 biopsies from Duchenne Muscular Dystrophy (DMD) sufferers using the acid-preincubated reaction for myofibrillar ATPase. Fibres, classified as either type 1, type 2 or 2C, were counted and their minimum diameters (least fibre axis) measured. Particular attention was paid to the population of small fibres that becomes increasingly prominent with the increasing age of the patient. Type 1 fibres were always predominant in the fibre population as a whole. The numbers of type 2 fibres declined with the increasing age of the patients while the numbers of 2C fibres increased. All fibre types were represented in the population of small fibres and the ratio of the numbers of types 1:2:2C fibres was approximately 1:1:3. Ultrastructural examination of the small fibres showed them to be at varying stages of regeneration and differentiation. The continuous presence of regenerating fibres in DMD while the muscles are wasting implies that while regeneration can be initiated it becomes increasingly constrained or restricted as the disease progresses. The cause of this restriction and whether it is related to the basic genetic lesion is unknown. It is suggested that the accumulation of fibrous connective tissue interferes with growth, either directly, in the formation of pseudomyotendinous junctions, or indirectly, by reducing nutrient exchange with the vascular system.
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PMID:Histochemical fibre typing and ultrastructure of the small fibres in Duchenne muscular dystrophy. 293 70

Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are human X-linked muscle-wasting disorders that have been localized to the band Xp21 by genetic linkage analysis and cytologically detectable abnormalities. A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males. Here we present the nucleotide sequence of two highly conserved DNA fragments from the DXS164 locus and their homologous sequences from the mouse X chromosome. One of the human conserved segments hybridized to a large transcript in RNA isolated from human fetal skeletal muscle and was used to isolate cDNA clones which cover approximately 10% of this transcript. The cDNA clones map to Xp21 and hybridize with a minimum of eight small regions that span 130 kilobases (kb) of the DXS164 locus. These expressed sequences are candidates for portions of the gene responsible for both DMD and BMD.
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PMID:Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. 377 91

Myosin ATPase activity was fine-structurally examined in various skeletal muscle lesions including atrophy, degenerations, necrosis, "deltashaped subsarcolemmal lesion", and apparently normal fibers from seven patients of Duchenne muscular dystrophy (D M D). The enzyme activity was almost completely lost in the foci of necrosis, and more or less markedly diminished in various kinds of degenerations, while it was well preserved in the apparently normal and simply atrophic fibers. The results suggested that there were two different lesions in wasting of the skeletal muscles in D M D; necrotic process with degenerations in which myosin-ATPase activity was affected and simply atrophic process which had little influence on the enzyme activity. The former lesion might be related with direct or indirect damages such as proteolysis, while the latter seemed to be an expression of basically different process such as disuse or denervation, or a more mild expression basically of the same process ultimately resulting in necrosis.
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PMID:Fine structural histochemistry of myosin-ATPase activity in the skeletal muscles of Duchenne muscular dystrophy. 621 29

Seven patients with neuromuscular disorders were examined, including one with cerebral palsy, one with Duchenne muscular dystrophy, two with paraplegia, and three with poliomyelitis; all exhibited skeletal changes mimicking those found in juvenile rheumatoid arthritis and hemophilia. These findings included apparent overgrowth of the epiphyses, periarticular osteoporosis, and joint-space narrowing in seven subjects; accentuation of the trabecular pattern in six; gracile bones and soft-tissue wasting in five; tibiotalar slant in two; and premature epiphyseal closure in one. Changes in osseous vascular dynamics and the debilitation or immobilization found both in patients with neuromuscular disorders and those with arthritis may help explain these overlapping findings. While the clinical distinction between the neuromuscular and arthritic disorders is straightforward, the similarity in radiographic appearance has received little attention. If the clinical history is inadequate, this may result in confusion or misinterpretation by the radiologist. In the absence of more specific findings, such as articular erosions or erosions of the femoral intercondylar notch, the differential diagnosis may be mistakenly limited to juvenile rheumatoid arthritis and hemophilia. In such cases, the neuromuscular disorders should also be considered in the differential diagnosis.
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PMID:Skeletal changes in neuromuscular disorders mimicking juvenile rheumatoid arthritis and hemophilia. 633 2


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