Muscular dystrophy, facioscapulohumeral
Muscular dystrophy, facioscapulohumeral Causes
Being an autosomal dominant disease, up to one third of the cases appear to be the result of de novo (new) mutations.
Muscular dystrophy, facioscapulohumeral Definition
Facioscapulohumeral muscular dystrophy is an autosomal dominant from of muscular dystrophy that is also known as Landouzy-Dejerine. It initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral) and is the third most common genetic disease of skeletal muscle.
Muscular dystrophy, facioscapulohumeral Diagnosis
A test that can measure the size of the D4Z4 deletions on 4q35 has become a preferred mechanism since 2000 but the test is very expensive that is why many physicians still rely on CK tests, electromyogram, nerve conduction velocity, and muscle biopsy.
Muscular dystrophy, facioscapulohumeral Symptoms and Signs
An authoritative and scientifically confirmed set of symptoms does not exist yet due to the extreme variability of the disease. The following are however observed among patients with the condition: facial muscle weakness, shoulder weakness, hearing loss, abnormal heart rhythm, unequal weakening of the biceps, triceps, deltoids, and lower arm muscles, loss of strength in stomach muscles and eventual progression to the legs.
Muscular dystrophy, facioscapulohumeral Treatment
To improve a patient's quality of life, scapular fusion or the surgical fusion of the scapula to the thorax and scapular bracing or the installation of a scapular brace to stabilize the shoulders are the common procedures to address the condition.