Facio Scapulo Humeral MD Explained
Will I become disabled?
The earlier in life the weakness appears the greater its eventual severity. Nevertheless, the progression of either arm or leg weakness in the individual can be hard to predict. Although the legs are affected to some degree in over 50% of people, for those in whom this does not become evident until early adulthood, even an eventual requirement for a wheelchair is unlikely.
To some extent, knowledge of the size of the DNA rearrangement (ie. the number of repeat units remaining) in a person with FSHD can give a broad guide as to whether the course of the condition would be expected to be relatively mild or more severe.
One fairly common feature of FSHD is an asymmetry of weakness: an uneven distribution of muscle weakness where one side of the body is more affected than the other (particularly early on). This is often evident in the shoulders, usually with the right side to be the first one involved in right-handed people.
In what way are the legs affected?
Early weakness at the ankles causing ‘foot drop' is not uncommon. Some degree of weakness at the knees or hips develops by middle age in over 50% of people. Together with weakness in the back muscles, this can result in a typical backward-leaning and high-stepping gait, although only 10-20% ever require a wheelchair.
Can any other problems be anticipated?
In some of the earliest childhood onset cases, learning difficulties and epilepsy have been reported. Hearing loss and specific problems with blood vessels at the back of the eye have been found, and although this rarely causes visual problems, a periodic eye check may be useful. It is still uncertain whether these rare features are generally associated in mild degree with FSHD, or are limited to a few more severe cases.
Muscle pain is unfortunately a quite frequent complaint accompanying FSHD, often in the early stages. This may relate to inflammation within the muscles, which seems to occur more in FSHD than other muscular dystrophies. Treatment with simple analgesia combined with anti-inflammatory agents is usually tried, but the effectiveness for relief can vary. Further studies are needed.
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