Myofibrillar myopathy is a type of genetic muscle disease causing muscle weakness and breakdown. The muscles of the feet and legs are often affected first, leading to walking difficulties and in some cases, eventual wheelchair use. The heart muscle can also be affected.
The patients in this study are all members of an extended family spanning three generations from the West Cork area, several of whom are affected. Some affected family members have been tested for genes associated with myofibrillar myopathies but none to date have tested positive.
The goal of this research is to identify all affected family members and document in detail their clinical status (phenotype). This will include age of onset, severity of symptoms, muscles affected, rate of progression and whether heart muscle is affected. This clinical knowledge base will itself be of value in documenting disease course and severity and will serve as a platform for further genetic testing in this family with a view to identifying the responsible gene.
