Diagnosis: ALS Possible x SMA x MMN

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HOPE_LACATC

New member
Joined
Nov 6, 2020
Messages
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Reason
PALS
Diagnosis
11/2020
Country
BR
State
MG
City
Belo Horizonte
Hi Everyone! (apologies for the long post)

First of all, I'd like to say that my heart, mind and prayers will be always with you, PALS and CALS. Thank you for accepting me here.
I'm a (desperate and devastated) future CALS or C"x" since we still don't know what is going on with my beloved Father.

1. Some information, first:
- My father is 60 years old;
- Used to run 3x/week, before 2018.
- In 2018 started to walk with a very discrete "limp" on the left leg. Things were getting worse. In 2019 and 2020, felt a couple of times when running and did not notice he was "limping". When asked why he felt, he answered that his left foot did not respond well.
-He had a lumbar surgery in January/20 (put a plate and 4 screws - to replace dead disc), but apparently, nothing to do with the left leg, since the weakness on the left leg and - sometimes - even no response from the left foot when walking continued after the surgery.
- Also, around 2017/2018 noticed a weakness in both hands, especially when using a tool or a nail trimmer - needs to wait for thumb back to normal then start trimming again. This happens in 2020 still, around -30% in strength.
- His physiotherapist noticed that he cannot activate some muscles on the left leg (below the knee) and asked for ElectroNeuralMiography, since the neurosurgeon thought everything was fine (!)
- He did it and also did an MRI from cervical and brain.

2. What we know so far:
2.1. EletroNeuroMyography

- Presence of signs of neurofunctional abnormality restricted to motor fibers, with a decrease in amplitude in lower limbs
- Normal sensory conduction parameter
- Signs of lumbar, thoracic and cervical denervation
- Important changes in the architecture of the motor units, with the majority of them, showing a tendency to the pole of large volume units in all studied segments, including the bulbar
- Neuropathic pattern
- Lower Motor Neuron altered in three segments (lumbar, thoracic and cervical)
- Neuroconduction of upper limbs OK
- Neuroconduction of lower limb diffusely in amplitude, with no response in the Left Fibular Nerve
- Intramuscular electrode: spontaneous pathological activity at rest: positive waves and fibrillation and, eventually, complex repetitive discharges in: lower limbs, trunk and upper limbs.
- No spontaneous activity in the head

2.2. Clinical analysis of Neurologists:
- fasciculations on the tongue
- Absence of pain
- No tingling or contractions
- Loss of 30% strength in the hands without significant functional change
- Loss of stability in the left lower limb
- Walk with a crane only
- Can stand on the toes for a few seconds in the morning, but not in the and of the day (tired, I guess)

2.3. MRI: Brain and cervical spine
- practically clear, with no compromise of Upper Motor Neuron.

Today we left the Neurologist with more doubt than before. So his Lower Motor Neuron is compromised in three segments but there is no problem on his Upper.
The doctor said we have to look for another opinion from a doctor specialized in Motor Neuron Diseases what is very hard to find here in Brazil. But we are still trying to find one. The neurologist told it could be three things:

A) ALS possible (but how, if the upper motor neuron is fine?) (If ALS, and started in 2018, this 2-year progression seems normal?)
B) PMA or SMA (how to distinguish between them?)
C) Multifocal Motor Neuropathy (how to find out?)

I'd like to share this picture with you and kindly ask for your input, suggestions and insights.

How can we have the diagnostic?

Kindest Regards,
Filipe
 

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HOPE_LACATC

New member
Joined
Nov 6, 2020
Messages
3
Reason
PALS
Diagnosis
11/2020
Country
BR
State
MG
City
Belo Horizonte
So, We went through a Doctor specialized in Motor Neuron Diseases. My father was diagnosed today with Progressive Muscle Atrophy, and for its historic, he's with it for at least 2 yrs.

The main reason for not being ALS was because the upper neuron motor is not compromised. He'll take Riluzol and we'll check his weight and reflexes from now on.

Please, I'd love to hear your inputs. Ms @Nikki J , any thoughts?
 

KimT

Extremely helpful member
Forum Supporter
Joined
Nov 18, 2014
Messages
4,148
Reason
PALS
Diagnosis
08/2015
Country
US
State
South
City
The Beach
PMA is considered a subset of ALS. It is usually slower in progression. It sounds like you have the right doctor and he will follow your father.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
10,453
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
yes as Kim says it is in the ALS family. Some in the US it is called lower motor neuron dominant ALS mostly to get benefits that go with a diagnosis here. It is encouraging that it took so long for diagnosis. Generally the longer it takes to diagnose the slower progression. Riluzole, maintaining weight and avoiding falls are all good strategies. I am sorry that he has mnd but hope he will have many happy times with you
 

HOPE_LACATC

New member
Joined
Nov 6, 2020
Messages
3
Reason
PALS
Diagnosis
11/2020
Country
BR
State
MG
City
Belo Horizonte
Thank you for your replies!

We'll have a second opinion next Monday. I'll post here if any changes on the diagnostic.

I'm searching a lot about nutrition and MND. It seems it is the game-changer indeed.

Have a great weekend everyone!
 
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