Learn About Reducing Body Myopathy
What is Reducing Body Myopathy?
Reducing Body Myopathy is a rare progressive genetic muscle disorder. In children, it is marked by rapidly progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers. link
What causes Reducing Body Myopathy?
It has been recently discovered that the X-chromosomal four and a half LIM (FHL1) domain gene is the causative gene for Reducing Body Myopathy. A mutation within FHL1 can cause Reducing Body Myopathy. link
What are the symptoms of Reducing Body Myopathy?
Symptoms and severity vary from patient to patient. The most common reported symptoms are listed as frequent falls, proximal muscle weakness, rapidly progressive weakness, early joint contractures, scoliosis, short neck, spinal rigidity, elevated Creatine Kinase, absent tendon reflex, swayback, increased variability in muscle fiber diameter, and respiratory insufficiency. Reducing Body Myopathy is progressive and can present with symmetrical and asymmetrical proximal weakness. link
What is the prognosis?
The prognosis for Reducing Body Myopathy is generally severe. Onset during infancy and early childhood are associated with a severe and rapid disease course leading to death within the first 5 years. Regardless of age of onset, the disease progression will result in the loss of ambulation, and death due to respiratory failure. link
How rare is Reducing Body Myopathy?
Reducing Body Myopathy is extremely rare in the childhood group of myopathies. As of 2021, just over 30 total cases have been reported in all of medical literature. link