Does anyone know anything about spinal muscular atrophy type 4?

[GrandmomMarci]

I'm in the same kind of situation. No Upper MND.. All lower. Classing me as PMA form of ALS. So what is the difference between
SMA and PMA?

 

[notme]

I'm in the same kind of situation. No Upper MND.. All lower. Classing me as PMA form of ALS. So what is the difference between
SMA and PMA?

SMA is genetic. PMA isn't.

It's entirely possible for PMA to morph into ALS, unfortunately. The good thing is that progression appears to be much slower. The bad thing is that getting in trials isn't normally possible with PMA as it doesn't meet the ALS criteria for diagnos, I.e. UMN involvement.

Both ALS and PMA are debilitating, as is SMA.

In PMA the UMN involvement sometimes isn't seen until autopsy...so it is often thought to be just a slower progressing form of ALS if my understanding is correct.

Certainly none of them are a cakewalk, though PMA has a slower decline generally, and longer survival estimates.

UMN only issues are generally eventually diagnosed as PLS. Again, some believe it's just a slower progressing form of ALS, with the same negative issues such as no drug trials, no automatic disability, etc.

Apparently, PMA and PLS take longer to diagnose as well.

 

[Kitchener]

Just to follow up
It looks like SMA can mimic PMA as there is a loss of motor neurons and no UMN involvement
You can rule SMA in or out with a diagnostic test which is presently available
SMA has a broad disability spectrum (from very mild slightly annoying but maintenance of full mobility to completely wheelchair-bound) but roughly the older you are when symptoms manifest, the better off you are likely to be
I have seen a number of references that SMA type 4 (generally symptoms appearing after the age of 30) does not impact life expectancy (I don't believe that this is the case with PMA)
Cheers
Kitchener

 

[GrandmomMarci]

Thanks Notme and Kitchener. I'm 57...and I would consider this fast. Within a year I'm mainly on scooter and very little walking with walker - mainly bathroom trips. Legs, arms, trunk all effected. About neck I'm fine. I will ask neuro on my Feb. appt.

 

[InTheVoid]

Hi kitchner,
I have spent an incredible amount of time researching SMA as my mother is affected with Kugelberg-Welander as well as (suspected) two of her siblings, and as you know I'm undergoing tests as well. The type of SMA in my family is type 3. Types 1/2/3 are linked to the SMN1 gene on chromosome 5q with SMN2 being the disease course modifier, while these types have different ages of onset they are all linked the the same gene and almost always show up before age 30. Although there are cases of people over the age of 30 developing 5q SMA its rare. 5q SMA results in symmetrical proximal muscle weakness, with both sides of the body affected equally and closer to the trunk being affected more than the hands and feet.
Is there a history of MND in your family? 5q SMA is a recessive disorder where both parents usually need to pass on a defective SMN1 gene. There are other forms of SMA that are caused by different genes, some of them are inherited in a dominant pattern which would be fairly evident in your family history. I came across three other genes UBA1, VAPB, and IGHMBP2. Some of these types present with distal muscle weakness instead of proximal, to mention your right hand. Have you noticed weakness or fatigue in you mid section or upper legs?

 

[Kitchener]

Hi ItV
Sorry for the delay in replying - I have been away from home. To answer your question I think SMA for me is a long shot, and it would be SMA 4 as I am in my early 40's. I get my test results 13 March. There isn't a history of MND in my family, although we are prone to multiple sclerosis, arguing and alcoholism. I am right as rain in the rest of my body apart from my right hand and the body-wide fasciculations - this is almost a year after initial diagnosis. I still go to the gym regularly and do 6kms on the jogging machine in about 28 mins + 12 mins on the rowing machine (I can hold on to the bar if I'm wearing gloves). I am truly thankful that I'm not progressing quickly, whatever it is I have. I think my neuro is still mostly sure I have MMN, but not certain - hence the other tests.
Good luck with your testing and all the best for a good outcome
Kitchener