1/19. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature. There are eight genetically distinct forms of AR LGMD, LGMD 2A-H (refs 2-10), and the genetic lesions underlying these forms, except for LGMD 2G and 2H, have been identified. LGMD 2A and LGMD 2B are caused by mutations in the genes encoding calpain 3 (ref. 11) and dysferlin, respectively, and are usually associated with a mild phenotype. Mutations in the genes encoding gamma-(ref. 14), alpha-(ref. 5), beta-(refs 6,7) and delta (ref. 15)-sarcoglycans are responsible for LGMD 2C to 2F, respectively. sarcoglycans, together with sarcospan, dystroglycans, syntrophins and dystrobrevin, constitute the dystrophin-glycoprotein complex (DGC). patients with LGMD 2C-F predominantly have a severe clinical course. The LGMD 2G locus maps to a 3-cM interval in 17q11-12 in two Brazilian families with a relatively mild form of AR LGMD (ref. 9). To positionally clone the LGMD 2G gene, we constructed a physical map of the 17q11-12 region and refined its localization to an interval of 1.2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/19. Benign muscular dystrophy with autosomal dominant inheritance.A slowly progressive myopathy was discovered in a family in four successive generations. Eight patients (four female, four male) from three generations were examined and they showed muscle weakness affecting predominantly proximal, but also distal, muscles. Two patients had unequivocal findings in childhood, the others showed myopathy in their twenties or thirties. Working ability was lost in physically demanding jobs in the thirties, but activities of daily living were still preserved. elbow contractures, tight heel cords and contractures of the interphalangeal joints were frequent. serum CK activity was usually mildly elevated and electromyographic examinations revealed myopathic changes. Histopathological changes were compatible with moderately advanced muscular dystrophy in two patients, the six others had mild myopathic changes.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/19. Oculopharyngeal muscular dystrophy in an Irish family.Victor and his associates coined the term oculopharyngeal muscular dystrophy to describe a clinical syndrome characterised by dysphagia and ptosis. Subsequent authors have traced a large series in French Canadians to a single quebec isolate and have emphasized that the condition is usually inherited as a dominant trait. In 1974 Fried reported two isolated cases in an Ashkenazi Jewish family of Hungarian extract in whom the condition was recessively inherited. In this paper we report an Irish family from North Cork with typical features of oculopharyngeal muscular dystrophy in whom the inheritance pattern is dominant with incomplete expression. In reporting such cases the ethnic and genetic heterogeneity of oculopharyngeal muscular dystrophy is highlighted. Case Report 1. A 68 year old farmer was admitted for investigation of recurrent chest infections. He complained of a 20 year history of progressive difficulty swallowing, productive cough and impaired vision. On examination he had a gaunt expressionless appearance with bilateral ptosis to mid pupillary level. Both right and left gag reflexes were noted to be reduced and sluggish, and on swallowing fluids were noted to regurgitate through his nostrils. Chest examination revealed the presence of bibasal coarse crepitations suggestive of aspiration. No further physical abnormalities were noted. On investigation, full blood count, urea, and electrolytes, liver function tests, sedimentation rate, thyroid function tests, muscle enzymes (PK, LDH) and electrocardiogram were normal. Chest radiograph confirmed aspiration. Tensilon test was negative. Oesophagoscopy outruled organic obstruction, and confirmed sluggish pharyngeal muscular activity. A clinical diagnosis of oculopharyngeal dystrophy was made on the basis of associated ptosis and dysphagia occurring in the presence of a supportive family history.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/19. quadriplegia from spinal cord injury in muscular dystrophy.Recommendations for exercise programs in patients with muscular dystrophy are controversial. These programs are designed to keep a patient ambulatory or functional for as long as possible. There have been no reports of a patient with muscular dystrophy who incurred a spinal cord injury. This report details the course of recovery and rehabilitation of a man with facioscapulohumeral muscular dystrophy with quadriplegia from a traumatic spinal cord injury. The patient was admitted to a spinal cord injury unit. After prolonged bedrest, he participated in physical and occupational therapy that was designed to exercise him just short of fatigue. Except for one incident, when the patient reinjured his spinal cord, he did not lose function that he had already attained. The rehabilitation of this patient demonstrates that it is possible for a patient with facioscapulohumeral muscular dystrophy who sustains a traumatic quadriplegia to enter a rehabilitation program with expectations for a good outcome despite a double disability.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/19. Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy.We studied twin sisters, in their sixth decade, who were obligate carriers of Duchenne dystrophy. One had a slowly progressing limb-girdle myopathy since her mid-20s. The other sister showed no evidence of neuromuscular disease by history or on physical examination but had high serum CK values and degeneration and regeneration of fibers in a muscle biopsy. Otherwise, they were phenotypically identical, karyotypically normal females with cytogenetically normal X-chromosomes. Based on red cell and HLA loci antigen determinations, there was a 99.2% probability that they were monozygotic. The mutant gene segregating in the family is probably linked to the Xp21 dna marker pERT87.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/19. The second individuation process in handicapped adolescents.Blos has conceptualized adolescence as the stage when a second process of separation individuation takes place. It is assumed that maturational processes like physical and sexual development combined with higher levels of thinking play a dominant role in this process enabling the disengagement of the adolescent from the family. Various handicapping conditions may force the adolescent to stay closer to his/her family and hence interfere with the adolescent's separation-individuation. It is suggested that the nature of the interference will vary depending on whether the handicap is physical or cognitive. Both conditions appear to have differential effects on the separation individuation process. The influences of various parental attitudes are also discussed.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
7/19. Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the x chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of dna is missing from the translocated chromosomes; 71 to 72 base pairs from the x chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/19. Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images.A 9-year-old Japanese boy with congenital muscular dystrophy (CMD) with normal intelligence was presented. He was extremely floppy and had joint contractures since birth. Motor milestones were delayed and he did not learn to walk alone. Intellectual development was normal and no convulsions were observed. On physical examination at 9 years old, he had diffuse muscle weakness and atrophy and flexion contractures of joints. creatine kinase was normal and IQ was 95. Biopsied muscle showed myopathic changes consistent with muscular dystrophy. CT scans of the head revealed diffuse low density area in the white matter of the cerebrum. These findings suggest central nervous system involvement in CMD is not confined to Fukuyama-type CMD.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/19. Serial isokinetic evaluations used for a patient with scapuloperoneal muscular dystrophy. A case report.This article reports the reversal of an atypical rapid decline in muscle strength experienced by a patient with scapuloperoneal muscular dystrophy by modulating his excessive daily physical activity. This process was aided by our monitoring the strength of the quadriceps femoris and hamstring muscles using an isokinetic dynamometer. Serial torque values for muscle strength were compared as the total daily physical activity was decreased systematically. The torque values for thigh muscle strength increased as the subject's total work load was decreased. A complete management program for neuromuscular patients should include specified amounts of daily physical activity, rest, and therapeutic exercise.- - - - - - - - - - ranking = 3keywords = physical (Clic here for more details about this article) |
10/19. The psychosocial impact of a progressive physical handicap and terminal illness (Duchenne muscular dystrophy) on adolescents and their families.This paper reports in narrative style on a sample of 13-16-year-old Duchenne muscular dystrophy adolescents in a residential setting in the UK. The terminally ill dystrophic boys' physical handicaps were noticed at about five years of age. In-depth interviews were conducted with parents, while projective assessment and psychodrama were used with the boys. Findings for this paper draw heavily on family interviews. Not surprisingly, the Duchenne boys evinced significant isolation from the mainstream of normal culture. The parents of the terminal group showed marked preoccupation with their sons, great stress and diminished expression of enjoyment. The Duchenne adolescents raised the issue of handicap surprisingly often with their parents, suggesting their great need to acknowledge their disease with parents. Their parents, however, evinced marked difficulty in responding to death issues with the boys - a reaction which leaves the boys alone and the parents guilty. These observations on the family are discussed in the context of a family identification process.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |
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