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...

The use of serum creatine kinase (SCK) estimations in the detection of female carriers of the severe (Duchenne-type) X-linked muscular dystrophy was first introduced by Okinaka and his colleagues in 1959, and since then the value of this test has been confirmed by many others (Dreyfus and Schapira, 1961; Hughes, 1963; Richterich, et al, 1963; Emery, 1965; Rotthauwe and Kowalewski, 1965; Wilson,...

A Research Highlight in the February issue (A novel imaging method to quantify low levels )1 presented of dystrophin in Duchenne muscular dystrophy. Nat. Rev. Neurol. 8, 120; 2012 findings on a new method for rapid dystrophin quantification in Duchenne muscular dystrophy (DMD)2. Although of interest, we believe that caution is required in the interpretation of dystrophin measurements obtained u...

Ths dissociation of gross congestive cardiomyopathy and muscle disease in different members of a family affected with Becker's benign X-linked muscular dystrophy is described. The possibility that cardiomyopathy and muscular dystrophy may be the expressions of the same mutant gene has been suggested.

Maximal systolic endocardial velocity (SEVM) and maximal diastolic endocardial velocity (DEVM) were determined echocardiographically in patients with muscular dystrophy (MD). The SEVM of the muscular dystrophy patients was 5.5 +/- 0.9 cm/sec and the DEVM was 13 +/- 3 cm/sec. The SEVM in MD was significantly less than that seen in age-matched normals (P less than 0.05), persons with myotonia con...

Maximal systolic endocardial velocity (SEVM) and maximal diastolic endocardial velocity (DEVM) were determined echocardiographically in patients with muscular dystrophy (MD). The SEVM of the muscular dystrophy patients was 5.5 ± 0.9 cm/sec and the DEVM was 13 ± 3 cm/sec. The SEVM in MD was significantly less than that seen in age-matched normals (P < 0.05), persons with myotonia congenita (P < ...

INTRODUCTION Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystrophy, stem cell therapy still remains experimental. CASE PRESENTATION ...

Respiratory failure is an important terminal event in muscular dystrophy, but increasingly is effectively treated by non-invasive ventilation. This study was designed to assess mortality statistics in this patient group in order to get an indication of future demand. Mortality data for all deaths from muscular dystrophy registered by death certification in England and Wales between 1993 and 199...

BACKGROUND AND OBJECTIVES Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE RE...

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...