Males with Duchenne muscular dystrophy have sub-average cognitive capacities and may manifest more specifically language-related deficits. In the current study, the information-processing capacity, reading performance, and behavioral functioning of 25 Dutch males with Duchenne muscular dystrophy (mean age 10.1 years) were systematically assessed. This study relied on the use of a new battery of...

Purpose Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a pan...

Duchenne muscular dystrophy is the most common and severe form of the childhood muscular dystrophies. The disease is typically diagnosed between 3 and 7 years of age and follows a predictable clinical course marked by progressive skeletal muscle weakness with loss of ambulation by 12 years of age. Death occurs in early adulthood secondary to respiratory or cardiac failure. Becker muscular dystr...

The extraocular muscles of dystrophic mouse strain Re-129 dy/dy were studied in combined phase and electron microscopy. Changes in fiber morphology were found which are similar to those described in dystrophic human and mouse peripheral musculature, i.e., changes in fiber diameter, alteratiotxs in the cellular organelles, including mitochondria, sarcoplasmic reticulum, nuclei, sarcolemma, and l...

Objective/background. This is a case presentation of a primary multifocal monomorphic and pleomorphic adenoma, with possible association with myotonic dystrophy. Methods/presentation. The patient was a 36-year old woman with myotonic dystrophy with multiple left parotid masses. Biopsy and final pathology demonstrated discrete de novo pleomorphic and monomorphic adenomas. Conclusions/impact. The...

We describe three siblings presenting unusual pigmented dystrophic lesions of the fovea. The first sibling showed macroreticular dystrophy associated with butterfly shaped dystrophy in one eye and associated with vitelliform cyst in the other eye. The second showed the atrophic outcome of a vitelliform cyst with development of subretinal neovascular membrane in one eye and a radial pigmented ma...

BACKGROUND AND PURPOSE The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine...

Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy findings). In these 10 sibships there had been 11 affected subjects, significantl...

BACKGROUND Emery-Dreifuss muscular dystrophy, caused by EMD gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms. OBJECTIVE To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with mutations in EMD. ...

articles that had high relevance had different scopes and methodology. One study compared levels of hypogonadism and erectile dysfunction (case–control study), another studied adult life with muscular dystrophy (cross-sectional study) and the third explored reproductive outcome and family planning after genetic counselling (combining interviews and questionnaires). Discussion The existing liter...