AFAIK it’s most likely a connective tissue disorder as opposed to muscular. For this there is also little help and rarely diagnosed. But at least may help find answers for comorbidities that are often considered unrelated.
The medical system has blindspots, and stigmas that extend even to well-documented diseases. I have EDS, which is a genetic disorder that causes loose connective tissue. One subtype (vascular EDS) is life-threatening, the others are merely painful and disabling. All but one subtype can be confirmed by gene sequencing, but the one that can't comprises the majority of cases. Most genetics departments reject all cases, except for vascular EDS. Rheumatologists usually own connective tissue disorders, but not this one because it's not autoimmune. There's no treatment other than PT and mobility aids.
It's a really bizarre situation because you can have a known-pathogenic COL5A1 mutation, dislocate your shoulders at will, and have a disorder so old that the ancient Greeks wrote about it, and still get belittled and gaslit (at worst) or passed off to a physiatrist who can prescribe you fancy splints and crutches (at best.) Largely (imo) because your disease isn't a good fit for any specialty.
Sorry to pry, but may I ask which neuro-muscular disease you're referring to? A bit fascinated by the inability of many doctors to make proper diagnoses when dealing with neurological issues.
My sister is similar, she has fibromyalgia and now she has another condition which no one in my family quite knows, and neither do the doctors. It hasn't been 30 years for me, but I do hope that some doctor can figure it out.
Musculoskeletal kinds of issues, involving a lot of inflammation and muscle spasm (this is a weirdly-named technical term, and not something where the muscles noticeably jerk). Unclear where it all originally came from, possibly from long-undiagnosed celiac disease.
There are surprisingly quite a few. In my case I have issues with discs in my spine and neck.
Sometimes it can be an autoimmune condition like multiple sclerosis or rheumatoid arthritis. Sometimes it can be downright mysterious such as many cases of fibromyalgia.
As disturbed as I am that you'd ask about this on hacker news... it sounds like a classic connective tissue disorder, i.e. joint hypermobility or Ehlers Danlos Syndrome. Your history of medical mismanagement is also typical of people with this problem: people will try to chase the problem around rather without identifying the underlying cause.
She probably has an underlying condition that's not being addressed. Autoimmune is quite common, but could be lots of things. Diet changes are sometimes enough.
Sometimes a massage gun and Bob and Brad youtube channel will fix muscle knots that are the real issues.
Not to be offensive, but is ALS his confirmed diagnosis? I have two family members who were diagnosed with different rare muscle-wasting diseases and have lost most of their arm and leg function over the past decade. Eating/breathing unaffected. They both lived on farms so we’ve always suspected there was a link.
My wife also has MCAS, POTS, and a connective tissue disorder that is not at the level of EDS. Was diagnosed about 4 years ago and is on treatments to suppress some immune responses, that has been helpful at taking the edge off some symptoms. It was like tumblers clicking into place when she saw a specialist and got the diagnosis, so many rather disparate, long-term symptoms all from the same cause.
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