r/spinalmuscularatrophy

Hi everyone. I have a background in Clinical Genetics and Healthtech, and I’m trying to better understand what life after rare genetic disease diagnosis actually looks like for patients and families.

On a personal level, my godsister and a close friend both have children with rare genetic diseases, SMA and EB. They live in two different countries and have had very different experiences navigating care, support, funding, school/work adjustments, and all the practical things that come after diagnosis.

I’m hoping to speak with a few patients or family caregivers for a 30min call to learn from real lived experience, especially from people based in the UK and rest of Europe.

This isn’t a survey, app testing, sales pitch or clinical advice.

If you're open to chatting or would like more information, please fill in the form here or DM me.

As a thank you, I can offer a small digital voucher after the call.

Thank you ❤️

एक गुजारिश 👏

I’ve been dealing with muscle twitching and ALS fear for around 3 years now. The twitching started in my legs and eventually spread all over my body, including calves, arms, back, feet, and even my tongue.

Over time I became hyperfocused on every small asymmetry or dent in my muscles and started constantly checking for atrophy. Recently I’ve been especially worried about my right foot/ankle area and whether it looks like muscle wasting.

What has been done so far:

• Multiple neurological evaluations
• Multiple EMG/ENMG tests over the years
• Leg ENMG in December 2023
• Whole-body EMG testing
• EMG of arms/hands and legs
• Tongue EMG
• MRI studies
• Clinical strength testing by neurologists

Latest EMG was normal, and all EMGs/ENMGs have been normal with no evidence of motor neuron disease according to neurologists.

I do have widespread fasciculations daily and sometimes internal vibrations/tremor feelings, fatigue, brain fog, foot discomfort, and health anxiety. Neurologist suggested benign fasciculation syndrome (BFS).

Despite this, I still obsess over whether certain areas look abnormal, especially my foot and ankle. I’m posting photos because I keep worrying about possible atrophy there and wanted outside opinions from people experienced with BFS/ALS anxiety.

Has anyone else gone through this cycle of constantly checking body parts even after clean EMGs?