Genetic Study of Familial & Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy & Other Neuromuscular Disorders

We have been studying families with a history of ALS for more than 25 years and are continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. Participants will be asked to provide a blood sample and to complete a couple of questionnaires regarding their overall medical health and some environmental risk factors. Medical records will be requested for all those diagnosed with one of the study diseases to allow the researchers to review details of their clinical disease symptoms, neurological exams and test results. Participants do not need to travel to Massachusetts for this study. Samples can be obtained locally at no costs to the participant. Family members may be included in the study depending on family history and their relationship to the affected individual. Diane McKenna-Yasek, RN BSN, 508-856-4697 or diane.mckenna-yasek@umassmed.edu.