Family History and Worrying Symptoms

[FiFiFi]

Hey all,

My partner, who is 30 years old and male, has a long family history of MND. His Dad who was diagnosed 4 years ago.

For about a year now he’s been having some symptoms. Mainly a stiff and achy right ankle and right wrist. He’s seen various specialists but most recently a neurologist who said he saw no signs of MND but ordered an EMG which came back normal. The neurologist signed him off.
However over the last couple of months we’ve noticed his right ankle and wrist getting increasingly thinner, his muscles in these areas seem softer than those on the left side.
My partner is convinced that his muscles are aching because some of the muscles are already being affected by MND and therefore not working and the muscles left are having to compensate. He thinks the atrophy is proof of this.
His GP just keeps saying she doesn’t know what it is!
Thank you for listening.

 

[Nikki J]

Hi. What is the family mutation?

30 is young for the major forms of FALS and clearly his dad was significantly older at onset

apparently he had no clinical weakness on the doctor’s exam so his theory of weak muscles causing the aches seems unlikely.

given family history he should be evaluated by the neurologist again to confirm/ rule out atrophy and reexamine for weakness

it is extremely common for FALS family members to worry like this but it is important not to let MND steal his life unnecessarily. Unless he has been gene tested there is 50 percent chance he is not at increased risk.

we are very very close to answers for FALS

 

[FiFiFi]

Thanks for your reply. It’s C9, we are starting the journey to get tested.

Could it be possible that some muscles have stopped getting signals even though he has no loss of function?

Also, I thought that atrophy would come after failure to be able to do something? Or can it come before?

Thank you again.

 

[Nikki J]

30 is EXTREMELY young for c9 onset. Extremely rare almost unheard of. There should be some weakness detectable on exam with motor neuron death. And yes atrophy from ALS generally follows failure. If he is uncomfortable he may be unconsciously limiting use and if there is atrophy it could be disuse.

see the neuro. Get tested so you know gene status. There will be treatment for c9 soon. They are planning trials for asymptomatic carriers once they have a treatment that works to lower the protein biomarker

 

[FiFiFi]

Sorry, one last question. Would you normally see more than just aches and atrophy after a year?

The research being carried out is so hopeful. And we’re heading towards getting tested, it’s just a tough decision.

Thank you for taking the time to listen and reply.

 

[Nikki J]

Every member of my family affected by c9 started with muscle failure. All of us. Then atrophy significantly after. My sister had pain when her muscles were so weak they could not support her frame. I do not have any discomfort yet

 

[FiFiFi]

Hi again,

My partner has another appointment with the neurologist but we have to wait a couple of months. His GP continues to say she’s not sure what’s going on.

I just wanted to ask about the very first symptoms. My partner says that his right calf, ankle, hand and forearm ache after use such as touching the accelerator when driving. Is this the beginning of muscles failing? He’s also been getting cramps lately which seem to happen more often when it’s cold.

It’s the appearance of his leg and arm that are most scary. They seem to be wasting away and I read in one of the stickies that atrophy can be a first symptom.

Sorry to return. If it wasn’t for the family history I wouldn’t be here.

 

[lgelb]

As Nikki has pointed out, the age and pattern of symptoms don't fit, nor does a normal EMG. Atrophy, aches and cramps that are worse with cold aren't what onset looks like and sounds like a muscle problem if anything. Nikki also pointed out that he could be unintentionally favoring muscles, thereby causing the atrophy.

Saying that atrophy can be a first MND symptom (which really doesn't make sense since atrophy in MND reflects rather than causes changes in function) is like saying a headache can be a symptom of a brain tumor. But you have to look at the whole picture. His does not resemble MND from all you have said.