Myotonic dystrophy is a dominantly inherited clinically variable multisystemic disorder, and has been found to be caused by heterozygosity for a trinucleotide repeat expansion mutation in the 3 9 untranslated region of a protein kinase gene (DM kinase). The mechanisms by which the expanded repeat in DNA results in a dominant biochemical defect and the varied clinical phenotype, is not known. We...

BACKGROUND In 1991, the first world survey of neuromuscular disorders (NMDs) was published in the peer reviewed literature. Since then, diagnostics have been greatly improved through genetic confirmation and consensus on criteria. This prompted us to search the scientific literature since 1990 for the epidemiology of NMDs. OBJECTIVES To study occurrence rates, gender and age distribution. M...

Introduction. The association of celiac disease and facioscapulohumeral muscular dystrophy was not reported earlier in the literature. Case presentation. A 35-year-old woman diagnosed clinically with facioscapulohumeral muscular dystrophy 23 years ago. In the family history patients’ mother was diagnosed with facioscapulohumeral muscular dystrophy, too. Physical examination revealed bilateral f...

The membrane organization of the erythrocytes from patients with Duchenne muscular dystrophy was studied by means of electron spin resonance. The fluidity of the membrane near the polar region of Duchenne muscular dystrophy erythrocytes was similar to that of normal erythrocytes. The membrane environment in the nonpolar region, however, was quite different from that of normal erythrocytes, judg...

BACKGROUND/AIMS The term trachyonychia, also known as twenty-nail dystrophy, is used to describe thin, brittle nails with excessive longitudinal ridging. The term twenty-nail dystrophy has been incorrectly applied to other conditions that can affect all twenty nails. Therefore, we have conducted a comprehensive review of the clinical features of trachyonychia and have included a discussion rega...

BACKGROUND Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation. OBJECTIVES To identify patients with limb-girdle muscular dystrophy type 2I and to derive genotype-phenotype correlations. DESIGN Two hundred fourteen patients who showed...

BACKGROUND The effect on subsequent respiratory function of spinal stabilisation for scoliosis in Duchenne muscular dystrophy is unclear. In order to clarify this clinical problem, changes in the forced vital capacity of a group of children with Duchenne muscular dystrophy who had undergone spinal surgery were measured and compared with a group of children with Duchenne muscular dystrophy who h...

B utterfly shaped macular dystrophy was first described by Deutman et al. in 1970. It is characterised by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium. Lesions consist of 3–5 ‘‘wings,’’ which resemble the wings of a butterfly. Affected patients present with a subnormal electrooculogram and normal or slightly diminished visual acuity. T...

A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6–62 years. Seventy-two patients had Duchenne muscular dystrophy, 32 Becker muscular dystrophy, 30 limb-girdle muscular dystrophy, 39 facio-scapulo-humeral dystrophy, 29 myotonic dystrophy, 21 congenital myopathy, 10 congenital muscular dystrophy, 35 spinal ...

Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting ...