Understanding Your Child's DMD Mutation and Treatment Eligibility
The exact DMD gene change matters. How deletions, duplications, and point mutations differ, and why the specific mutation shapes eligibility for some treatments.
All articles and blog posts tagged #diagnosis.
The exact DMD gene change matters. How deletions, duplications, and point mutations differ, and why the specific mutation shapes eligibility for some treatments.
Creatine kinase, or CK, is a blood marker that is very high in Duchenne. What CK is, why it rises, what the number does and does not mean, and how it is used.
Genetic counseling in DMD: carrier testing for mothers and sisters, recurrence risk, family planning options, and what a counseling visit covers.
Newborn screening for Duchenne may support earlier care and counseling, but evidence, ethics, and treatment access remain unsettled.
The first year after a Duchenne diagnosis is intense, fragmented, and full of decisions. A guide to what families can expect and ask.
Understand the dmd diagnosis pathway, from early symptoms and CK testing to genetic confirmation and specialist follow-up.
Early signs of Duchenne muscular dystrophy include delayed walking, frequent falls, calf enlargement, and when to ask a clinician about testing.