Presentation Professor Dr. De Bleecker

Diagnosis and variation in the evolution of ALS

I. Diagnosis:

1. Combination of LOWER and UPPER motor neuron deterioration:

Lower: muscle is insufficiently nerved: results into muscle atrophy, fasciculation and a loss of strength

Upper: injury in the brain cortex: results into spasticity (stiffness), cramps, contractures and a loss of strength

If not both affected: maybe ALS (see further)

2. Progression of the symptoms

Individually fluctuating in time

Not always linear (individually unpredictable)

3. No other explanation for the pathology

First they rule out other diseases similar to ALS

4. Role of supporting studies  

> Blood test: is used to rule out other diseases, ALS itself does not have a blood test

> Electromyogram (EMG): is there damage or not?, also in this case there is no typical image of ALS

> Lumbar puncture: is also used to rule out other diseases

There is no test available that gives 100% certainty for the ALS-diagnosis

II. Common progression:

- On average 2-5 years (always progressive disease), but can also be longer (eg. > 10 years)

- Worse prognosis in case:

* there is a short period of time between the first symptoms and the diagnosis

* bulbar start

* older age

- still very fluctuating

- prof gives about 5 examples of patients he has been treating. 

 

An explanation is also given about other diseases that are similar to ALS (ALS as part of a broader deterioration of the nerve system):

- Progressive spinal muscle atrophy: in this case no upper motor neuron sign

 (pay attention to the definition of ALS: ALS includes upper and lower deterioration of the neuron)

- Multifocal motor neuropathy

Be convinced that the progression of the disease is unpredictable.  The advice given by the professor is: ‘prepare yourself that things will deteriorate, but HOPE for the best’.

Questions asked afterwards:

> try to move relatively a lot, if possible

> explanation about stimuli and fasciculation

> lumbago/lower back pain: can arise because of the fact that because of ALS the muscles will not spare your joints

> PLS: only upper motor neuron/central motor neuron

> creatine?:  ‘minced meat’: has not given any results during the studies

> Vitamin E?: mice study has shown that in combination with Rilutek the disease will slow down.  Although there is no real proof because of a lack of widespread studies.

> Vitamin B?: Possibly.  Study has been finished.  Is there a lack of vitamin B?

> Lioresal?: Medicine against spasticity: is not administered all the time, also weakening of the muscles. 

> Front temporal lobar degeneration with ALS?: Not to the memory, but to the behavior.  Can arise, relates to the upper motor neuron. 

> Ono-study?: The Prof. Says that this will be tested with early-diagnosed patients: results not yet available.