The impacts of potentially treatable psychological parameters on quality life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. purpose this study was to compare life, parameters, physical function between dystrophy controls, examine relationships among these Twenty-one (n = 7 Becker, n 8 6 Limb-girdle) ten age-matched controls participated...

Myasthenia gravis and myotonic dystrophy do not usually coexist; however, we present a rare case where both conditions coexisted. Herein, we describe a 34-year-old woman who presented with symptoms of myasthenia gravis with coexisting myotonic dystrophy. She complained of limb weakness, difficulty in chewing and swallowing, and ptosis. She also had myotonia. The patient’s brother also had simil...

PURPOSE To screen a cohort of corneal dystrophy patients from North India for mutations in the transforming growth factor beta induced (TGFBI) gene, to correlate genotypes to phenotypes, to describe structural implications of various mutations on protein function, and to discuss the implications for diagnosis. METHODS Eighty affected individuals from 61 unrelated families, who were diagnosed ...

OBJECTIVE To describe the ophthalmic and genetic findings of a large kindred (UM:H389) with autosomal dominant hemorrhagic macular dystrophy. METHODS The disease state of family members was documented by dilated fundus examination, electroretinography, color vision tests, fluorescein angiography, measurement of visual fields, biomicroscopy, gonioscopy, and intraocular pressure measurement. Li...

PURPOSE To present a detailed phenotypic and molecular study of a series of 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone-rod homeobox (CRX) gene and to report a novel phenotype. METHODS Families were ascertained from a tertiary clinic in the United Kingdom and enrolled into retinal dystrophy studies investigating the phenotype and molecular basis o...

OBJECTIVES To search for novel mutations that cause corneal stromal dystrophies and to confirm or revise the clinical diagnosis of patients with these mutations. PATIENTS Through review of the records of the Cogan Eye Pathology Laboratory at the Massachusetts Eye and Ear Infirmary, Boston, and of clinical records, we ascertained 14 unrelated patients with the clinical or histopathologic diagn...

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Sou...

The sustained expression of RNA-targeting Cas9 delivered intramuscularly or systemically by adeno-associated viral vectors eliminates pathogenic foci expanded-repeat transcripts and reverses muscle-disease phenotypes in mouse models myotonic dystrophy type 1.

Muscular dystrophies are a heterogeneous group of genetic muscle diseases characterized by progressive muscle weakness and atrophy. Cardiomyopathy and congestive heart failure or conduction system abnormalities that cause arrhythmias, and sudden cardiac death have been observed in muscular dystrophies. Despite the extensive research and ongoing clinical trials in muscular dystrophy to improve s...

OBJECTIVE To investigate the prevalence, age distribution, and spectrum of cardiac involvement in a cohort of patients with Becker muscular dystrophy. DESIGN A prospective non-invasive study with clinical, electrocardiographic, and echocardiographic assessment. PATIENTS 19 patients (age range 16-41 years) with Becker muscular dystrophy attending the Muscle Clinic at Hammersmith Hospital and...