You call it FSHD…
We call it a neuromuscular disorder.
Michael Gottlieb’s journey with Facioscapulohumeral muscular dystrophy (FSHD) began when he was 4 years old and his kindergarten teacher called his parents to tell them he couldn’t run. But, he wouldn’t receive an official diagnosis until the age of 38. Over the course of his life there have been several other missed opportunities for diagnosis – an experience sadly shared by many. While he says the road to diagnosis was challenging it was ultimately a relief to know the symptoms were not in his head. He was happy to finally have a road map for moving forward and managing his symptoms.
Michael’s life is a full one. He has a wonderful family, a strong social circle, and a career he’s proud of in the healthcare industry. He wants you to know that although diagnosis comes with a lot of anxiety and fear there are great resources out there, including Muscular Dystrophy Canada, who can help connect you with the support you need.
What you need to know about FSHD
FSHD or Facioscapulohumeral muscular dystrophy is a genetic disease characterized by progressive muscle degeneration. FSHD gets its name from the muscle groups that are most commonly affected: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). FSHD is unlike most muscular dystrophies because it is not caused by a spelling mistake (or mutation) in the DNA that codes for a gene. Instead, it is linked to a spelling mistake that is in DNA outside of a gene. The mutation is a missing segment of DNA on chromosome 4. There is a small number of people who have FSHD symptoms but have this segment present. The genetic reason for this is still being studied.
This disease is one of the forms of muscular dystrophy that does not discriminate as it affects men, women and children. Symptom onset varies widely but it usually begins before age 20 with some individuals already showing symptoms in childhood. It is also a hereditary disease that is passed from parents to children, although about one in three people with FSHD have no prior family history. Whether a person affected by FSHD inherited the genetic spelling mistake or it occurred spontaneously, there is a 50% chance that a parent’s condition will be passed to their own children.
Although there is currently no effective treatment that can halt or reverse the effects of FSHD there are several treatments and medical devices that can help alleviate the symptoms. Through MDC’s Personal Support Program, we can help you find support and funding that can greatly increase your quality of life. Contact us today.
FSHD Muscular Dystrophy Clinical Trials
There is currently 1 FSHD trial that will be recruiting in Canada. See the list below for more info:
- Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)
- Recently a Clinical trial for ACE_083 from Acceleron was discontinued as it showed no significant improvement in muscle strength or function. Although this is disappointing news, the learnings from this trial are very valuable to the muscular dystrophy field and will help in designing future trials for FSHD. Learn more