My grandmother died with ALS about 20 years ago. Her sister's son also died with ALS. My mother died with ALS on May 11, 2007. I have 2 sisters. You can bet we're all very nervous. From mom's specialist at the MDA Clinic in Oklahoma City, we each have a 50/50 chance of inheriting this dreaded disease.
I remember my grandmothers seemed to start in her throat. She had trouble swallowing, then talking. I don't believe she lasted more than 6 months after diagnosis.
My mother's issues started with her feet. She was about 70 years old. She had a lower back injury from 20 years ago. She was told back then that she may have some issues later in life. Therefore, when she began to have trouble with her feet (arches fell, swelling) she thought it was her back. She tripped and fell a couple of times, the last time breaking her hip. During recovery, doctors were puzzled that she had a lot of trouble with her adominal muscles that made her recover very slow. When she recovered, the foot on that injured side dropped. She couldn't pick it up very well. She blamed it on the surgery. Physical Therapy was useless. Finally, she was referred to a 'Bone and Joint' Specialist in Tulsa. He did the EMG testing and checked her bloodwork. Then he scratched his head and said, 'I hope I'm wrong, but I think you have ALS'. He referred her to Dr. Beson with the MDA Clinic in Oklahoma City. Her diagnosis was confirmed. They called it a form of ALS, called Primary Muscular Atrophy. She was told she would last 3-5 years. She was in extreme denial through most of the disease's progression, which made it very hard on her family.
I believe the PMA progressed very rapidly into full blown ALS. Her feet became atrophied, hands slowly became useless and atrophied, she didn't have much trouble with twitches until the end...more like tingling in the beginning. Swelling was also an issue and trouble sleeping. Then, her lungs became affected. Hospice was very helpful and got oxygen for her. Her specialist in Oklahoma City warned her not to use oxygen, she must use a bi-pap to push the air into her lungs. They told her that her lungs would shut down otherwise. I'll never forget, she told them, 'I think that's a pretty good option....don't you?' She continued to use her oxygen. She didn't last long, once her lungs became an issue. She put herself to bed a few weeks later and was gone within one week. My mom lasted one year to the day from diagnosis. http://www.als-shirleyshope.com
I understand genetic counseling and testing can be done, but not recommended.