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)

Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH, distal, ocular, or oculopharyngeal type, has its counterpart of nuclear origin. A classification of the chronic spinal muscular atrophies is suggested following the classification of muscular dystrophy.
 ...
PMID:Chronic spinal muscular atrophy of facioscapulohumeral type. 95 78

The objective of this study was to evaluate the consequences of facioscapulohumeral muscular dystrophy (FSH MD) using two different but complementary procedures: an analysis based on the three different dimensions of disablement developed by the WHO--impairment, disability, and handicap--and a study of the psychological repercussions on social identity. Sixty-eight individuals with FSH MD, with 68 members of a control group, responded to a battery of psychosocial questions. Individuals with muscular dystrophy were also studied with reference to the dimensions of impairment, disability and handicap. The results showed that there are close correlations among measures of the three dimensions of disablement. Evaluations made by people with muscular dystrophy of the seriousness of their own disablement are strongly linked to objective measures of impairment. Furthermore, we found that having muscular dystrophy does have certain consequences for an individual's self-identity, although the degree to which one's self-image is validated is to some extent independent of the seriousness of the illness.
 ...
PMID:Social identity and the International Classification of Handicaps: an evaluation of the consequences of facioscapulohumeral muscular dystrophy. 147 96

The patient, a 52-year-old male, noticed abnormalities on walking at about 20 years of age, followed by slowly progressive muscle weakness of arms and neck. The family history was negative. He showed muscular atrophy and weakness with a preferential involvement of the scapular, arms and peroneal muscles. Deep tendon reflexes were absent. He had a limited range of motion in the spine, but the onset was unclear. Creatine kinase (CK) was elevated (324 IU/L) and the EMG study showed myogenic pattern. Muscle biopsy was obtained from the biceps brachii muscle; on NADH dehydrogenase stain, there was subsarcolemmal increase in the oxidative enzyme activity showing "lobulated fiber" mostly seen in type 1 fibers. On electron-microscopy, the sub-sarcoplasmic areas which had high NADH activity, contained many mitochondria and glycogen particles. However, iodine-glycogen complex spectrum analysis pattern and debranching enzyme activity were normal. CT scan revealed low density in the paravertebral muscles, suggesting degeneration. This is a rare type of scapuloperoneal atrophy different from Emery-Dreifuss syndrome, rigid spine syndrome and FSH type muscular dystrophy.
 ...
PMID:[A case of scapuloperoneal atrophy with rigid spine having lobulated fibers in muscle biopsy]. 191 28

The inflammatory forms of facioscapulohumeral myopathies are rare. In a series of 52 cases, six patients had these types. Only four cases could be investigated with immunochemical staining (immunoperoxidase). Monoclonal antibodies reactive for B cells, T4 cells, T8 cells, natural killer cells were used for cell typing. Macrophages were identified by the acid phosphatase reaction. Nine muscles have been used as controls: 3 normal muscles, 3 polymyositis and 3 dermatomyositis. In all these inflammatory myopathies T cells were the most abundant cells. NK cells were rare. In inflammatory FSH-D and in polymyositis the infiltrates were principally endomysial, whereas T8 lymphocytes were more abundant than T4 lymphocytes; it was the contrary in the perivascular and perimysial sites of accumulation. In dermatomyositis the infiltrates were especially perivascular. In this site of accumulation T4 was twice abundant than T8, B cells and macrophages were also very abundant. In the endomysium the T8 cells were more numerous than T4 cells. It seems that the inflammatory forms of FSH-D should be considered as an inflammatory myopathy. In these forms a polymyositis should be associated with the dystrophy. These forms could be considered as an association of a polymyositis and a muscular dystrophy, but the circumstances of their appearance and their non-response to corticosteroid administration remain to be determined.
 ...
PMID:[Immunocytochemical study of the inflammatory forms of facioscapulohumeral myopathies and correlation with other types of myositis]. 266 Aug 10

The study of skeletal muscle disorders is providing potentially important insights into regulatory mechanisms in human exercise and fatigue and information useful for diagnostic and treatment purposes. This review primarily concerned the general metabolic and physiological factors which set upper limits to performance of various types of exercise in patients with a variety of muscle disorders. From the standpoint of exercise performance, skeletal muscle diseases can be classified into three major groups. One group consists of primary disorders of muscle energy metabolism, including defects in muscle carbohydrate and lipid metabolism, disorders of mitochondrial electron transport, and abnormalities of purine nucleotide metabolism. Exercise performance largely reflects the capacity for ATP resynthesis. Oxidative phosphorylation is the dominant quantitative source of energy for ATP resynthesis under most exercise conditions. Consequently, patients with disordered oxidative metabolism (i.e., patients with defects in the availability or utilization of oxidizable substrate, such as those with phosphorylase or PFK deficiency or those with defects in mitochondrial electron transport) typically demonstrate severely impaired exercise performance. Intolerance to sustained exercise and premature fatigability are salient features of muscle oxidative disorders. Maximal oxygen uptake and maximal a-v O2 difference are markedly subnormal related to an attenuated muscle oxygen extraction. Muscle weakness and atrophy are less common. Anaerobic muscle performance is dramatically limited in patients with virtually complete defects of glycogenolysis/glycolysis but appears relatively normal in those with electron transport defects. A second major group of disorders includes patients with decreased muscle mass due to muscle necrosis, atrophy, and replacement of muscle by fat and connective tissue. These disorders are exemplified by the various muscular dystrophies (Duchenne's dystrophy, Becker's dystrophy, LG dystrophy, FSH dystrophy, and myotonic dystrophy) in which exercise performance is severely impaired due to muscle wasting and weakness in spite of largely normal pathways for muscle ATP resynthesis. In muscular dystrophy patients, the degree to which maximal oxygen uptake and anaerobic muscle performance are impaired appears to be a function of the severity of muscle weakness and atrophy. A third group of disorders includes patients with impaired activation of muscle contraction or relaxation. These disorders may be considered in two subcategories. In the first, impaired activation or relaxation of contractile activity is due to intrinsic muscle dysfunction (e.g., diseases associated with myotonia or periodic paralysis). In the second subcategory, there is impaired muscle activation due to a primary abnormality in the central nervous system, motor nerves, or neuromuscular junction.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:Skeletal muscle disorders and associated factors that limit exercise performance. 267 57

Bilateral sloping high frequency hearing loss of 20-90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequent phenomenon of early onset FSHD.
 ...
PMID:Hearing loss in facioscapulohumeral dystrophy. 376 95

Gangliosides of healthy and pathologic muscles (amyotropic lateral sclerosis and facio-scapulo-humeral muscular dystrophy) were studied. Total ganglioside content of the affected muscles was approximately 2 fold higher than the unaffected muscles. Our results showed that ALS muscle contained a ganglioside which was absent in the unaffected and FSH muscular dystrophic muscles. Based on the results of hydrolysis with Vibrio cholerae neuraminidase and subsequent reactivity of the asialo derivative towards anti-globotetraosylceramide, we propose that the ALS ganglioside is sialosylglobtetraosylceramide, NeuAc(alpha 2-3)Ga1NAc(beta 1-3)Ga1(alpha 1-4)Ga1(beta 1-4)G1c-Cer.
 ...
PMID:Sialosylglobotetraosylceramide: a marker for amyotropic lateral sclerosis. 669 69

X-linked congenital adrenal hypoplasia (AHC) is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the DAX-1 gene, a recently discovered member of the nuclear hormone receptor superfamily. Hypogonadotropic hypogonadism is frequently associated with AHC. AHC occurs as part of a contiguous gene syndrome together with glycerol kinase deficiency (GKD) and Duchenne's muscular dystrophy. The present series, collected over the past 2 decades, includes 18 AHC boys from 16 families: 4 with AHC, GKD, and Duchenne's muscular dystrophy; 2 with AHC and GKD; and 12 with AHC (5 young adults with hypogonadotropic hypogonadism). Most of the boys presented with salt wasting and hyperpigmentation during the neonatal period. Plasma steroid determinations performed in the first weeks of life often showed confusing results, probably caused by steroids produced in the neonates' persisting fetocortex. Aldosterone deficiency usually preceded cortisol deficiency, which explains why the patients more often presented with salt-wasting rather than with hypoglycemic symptoms. An ACTH test was often necessary to detect cortisol deficiency in the very young infants. In some patients, serial testing was necessary to establish the correct diagnosis. In 4 boys studied during the first 3 months after birth, we found pubertal LH, FSH, and testosterone plasma levels indicating postnatal transient activation of the hypothalamic-pituitary-gonadal axis as in normal boys. Previous studies have shown that the DAX-1 gene is deleted in the AHC patients with a contiguous gene syndrome and is mutated in nondeletion patients. Most of the point mutations identified in AHC patients were frameshift mutations and stop mutations. In the 15 patients available for molecular analysis of the DAX-1 gene, there were large deletions in 6 patients and point mutations in another 7 patients. All of the point mutations identified in the present study resulted in a nonfunctional truncated DAX-1 protein. Two brothers with primary adrenal insufficiency and a medical history that strongly suggested AHC had no mutation in the DAX-1 gene. Thus, additional, as yet unknown genes must play a part in normal adrenal cortical development.
 ...
PMID:Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. 970 29

We reported a 58-year-old man with facioscapulohumeral muscular dystrophy who had acute compression neuropathy of the sciatic nerve after prolonged sitting position. MRI and percutaneous electric stimulation studies were usefull for the diagnosis. Gd-DTPA T1-weighted MRI images showed the enhanced right sciatic nerve at the level of gluteus maximus muscle. An evoked potential study by a percutaneous electric stimulation revealed evidence of a conduction block at the same level. After methylprednisolone pulse therapy, muscle weakness and sensory disturbance improved. Acute compression neuropathy of the sciatic nerve may be seen as a complication in the advanced stage of (FSH) muscular dystrophy.
 ...
PMID:[Acute compression neuropathy of the proximal sciatic nerve in a patient with facioscapulohumeral muscular dystrophy]. 1020 84

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12 affected members (male:female-7:5). Mean age at onset of weakness was 17.63 + 5.48 years. Patients were classified according to muscle groups affected (F-face, S-scapula, H-humeral, PG-pelvic girdle, P-peroneal, A-loss of independent ambulation): FSH-A (2), four FSH (4), SH (3), FSH-PG (2) and one: F (1). Progression of weakness was classified as F>S>P>PG in eight cases, S> F>P in one, static in three. Eleven patients had electromyographic findings suggestive of myopathy and one had features of neurogenic involvement. Molecular diagnosis was done by southern blotting using probe p13E-11 after digestion of genomic DNA with EcoRI and/or EcoRI/BlnI for twelve patients and three unaffected relatives. No EcoRI fragment smaller than 35 Kb was seen in unaffected subjects. Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families.
 ...
PMID:Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent. 2064 74


1 2 Next >>