𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Social adjustment in adult males affected with progressive muscular dystrophy

✍ Scribed by Eggers, Sabine; Zatz, Mayana


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
69 KB
Volume
81
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980207)81:1<4::aid-ajmg2>3.0.co;2-#

No coin nor oath required. For personal study only.

✦ Synopsis


Adult male patients affected with Becker (BMD, N = 22), limb girdle (LGMD, N = 22) and facioscapulohumeral (FSHMD, N = 18) muscular dystrophy were interviewed to assess for the first time how the disease's severity and recurrence risk (RR) magnitude alter their social adjustment. BMD (X-linked recessive) is the severest form and confers an intermediate RR because all daughters will be carriers, LGMD (autosomal-recessive) is moderately severe with a low RR in the absence of consanguineous marriage, and FSHMD (autosomal-dominant) is clinically the mildest of these three forms of MD but with the highest RR, of 50%. Results of the semistructured questionnaire [WHO (1988): Psychiatric Disability Assessment Schedule] showed no significant difference between the three clinical groups, but more severely handicapped patients as well as patients belonging to lower socioeconomic levels from all clinical groups showed poorer social adjustment. Taken together, myopathic patients displayed intermediate social dysfunction compared to controls and schizophrenics studied by Jablensky [1988: WHO Psychiatric Disability Assessment Schedule]. Since the items of major dysfunction proportion among myopathic patients concern intimate relationships (70%), interest in working among those unemployed (67%), and social isolation (53%), emotional support and social and legal assistance should concentrate on these aspects. Interestingly, the results of this study also suggest that high RRs do not affect relationships to the opposite sex.


πŸ“œ SIMILAR VOLUMES


Splicing mutation in dysferlin produces
✍ McNally, Elizabeth M.; Ly, Chantal T.; Rosenmann, Hanna; Mitrani Rosenbaum, Stel πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 56 KB

Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the types of

cover
✍ Elle Adams πŸ“‚ Fiction πŸ“… 2018 🌐 English βš– 103 KB πŸ‘ 2 views
cover
✍ Adams, Elle πŸ“‚ Fiction πŸ“… 2018 🌐 English βš– 103 KB πŸ‘ 2 views
The facioscapulohumeral muscular dystrop
✍ Zatz, Mayana; Marie, Suely K.; Cerqueira, Antonia; Vainzof, Mariz; Pavanello, Ri πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 28 KB

We investigated 52 families of patients with facioscapulohumeral muscular dystrophy (FSHD1), including 172 patients (104 males and 68 females). Among 273 DNA samples which were analyzed with probe p13E-11, 131 (67 males and 64 females) were shown to carry an EcoRI fragment smaller than 35 kb; 114 am

Are Dp71 and Dp140 brain dystrophin isof
✍ Moizard, Marie-Pierre; Billard, Catherine; Toutain, Annick; Berret, FranοΏ½oise; M πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 77 KB

Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients. Complete analysis of the dystrophin gene was performed to define the

Increase in fetal breech presentation in
✍ Geifman-Holtzman, Ossie; Bernstein, Ira M.; Capeless, Eleanor L.; Hawley, Pamela πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 17 KB

Female carriers of Duchenne muscular dystrophy (DMD) may demonstrate elevated serum creatine kinase (CK) and reduction of muscle dystrophin in all muscle types. We hypothesized that decreased dystrophin in uterine or pelvic girdle musculature might affect the obstetrical performance of females heter