THE CLINICAL MANAGEMENT OF MUSCULAR DYSTROPHY AND ASSOCIATED NEUROMUSCULAR DISEASES

Proteins in the urine associated with Duchenne muscular dystrophy and other neuromuscular diseases.

1. Up to 200 protein staining spots could be detected on two-dimensional electrophoresis of urine from healthy persons. Other minor spots were occasionally present. 2. Although the electropherograms exhibited constant characteristic features some variation in protein pattern was observed between individuals and with a given individual at different times. 3. Two additional proteins, spots C and ...

Neuromuscular Disorders Duchenne Muscular Dystrophy

TOUCH MEDICAL MEDIA Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting one in 5,000 live male births which makes it the most common and most severe form of muscular dystrophy. The absence of the protein dystrophin leads to symptom onset typically between the ages of two to five years, with abnormal gait and frequent falls being hallmark signs. Other signs may include delays in ...

P164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts f...

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.