What is the role of creatine kinase (CK) determination in the evaluation of muscular dystrophy?
Creatine kinase (CK) is an important protein in muscle cells. It is also found in the heart, brain, and other tissues, but at lower levels. Increased amounts of... Read more.
Can the number of deletions on gene 4q be used as an indicator for prognosis for facioscapulohumeral muscular dystrophy ?
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with slowly progressive weakness of the facial muscles, scapular winging and foot drop. The severity... Read more.
Duchenne and Becker muscular dystrophies have similar signs and symptoms. Is there a genetic difference to inform a diagnosis?
Duchenne and Becker muscular dystrophy are part of a spectrum of disease now more correctly called dystrophinopathies, as they are due to genetic faults (mutations)... Read more.
Use of creatine and steroids
The use of creatine and steroids is dealt with here in response to two questions received. I have muscular dystrophy. Friends have suggested using the supplement... Read more.
Genetic testing
What is genetic testing? Genetic testing is a type of medical test that identifies the changes in our genes that cause disease. It is usually performed by studying... Read more.
Care management protocols in South Africa for patients with muscular dystrophies
Care management protocols are a team-based, patient-centred approach designed to assist patients and their support systems in managing medical conditions more effectively.... Read more.
Doctor’s Column – December 2023
Question: My neurologist has diagnosed me with muscular dystrophy. How do I genetically confirm the diagnosis and establish the whole process of whom to contact,... Read more.