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Summary phys.theory: ALS

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Summary of the ALS lesson given by prof. E. van Camp from the subject of physiotherapeutic theory. It is a summary of the powerpoint slides and additional items noted during the lesson. The slides were in English and my own notes are always in Dutch as much as possible. It is therefore a mix of the...

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  • December 17, 2023
  • 15
  • 2023/2024
  • Summary
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Physioth. Theory: ALS

CLINICAL PRESENTATION OF ALS
 Neurological degenerative disease
 Prevalence: 10-12/100.000
- Grote var.
 Incidence: 1,7-3/100,000 year
 Male-female ratio 1,2-1,5
 Age onset: 58-63
 Survival: 2-5 years
 Cause of death: respiratory failure
- Pneumonias -> overnight ventilation -> 24h ventilation
- In & expiratoire spieren verzwakken

GENETIC FEATURES
 10% familial , 90% sporadic
- Sporadic ALS: also gene mutations
 15% genetic cause is known, 85% unknown
 C9orf72 50% fALS, 7% sALS
 SOD1 20% fALS 1% sALS
 FUS &TARDBP 2-3% fALS

Involvement zeer belangrijk

 UMN involvement:
- Corticospinal tract
 Limb onset
 Spasticiteit
 Soms ook spraak
- Corticobulbar tract
 Spraak
 Respiratoir
 Slik problemen
 LMN involvement:
- Spinomuscular tract
 Hand & voeten atrofie
 hypotonia

PRECEDING SYMPTOMS (BEFORE WEAKNESS)
 Muscle cramps
 Fasciculations
- You can see the muscle fibres twitching, during the day not painfull but when they want to go to sleep it can
be disturbing
- Spiervezels zien bibberen onder huid
 Weight loss




Nala Melis Pagina 1

, Physioth. Theory: ALS
DISEASE ONSET
 What is the onset and what symptoms come first and which ones later?
 3 grote groepen= phenotypes

1. SPINAL ONSET
 Often asymmetrical weakness
 Distal > proxilam, arms > legs
 Hypotonia or spasticity
o Hypotonia = LMN
o Spasticity = involvement of UMN
UL onset LL onset
 Langere levensverwachting dan bulbar onset
2. BULBAR ONSET
 Dysphagia: swallowing, chewing problems
 Dysarthria= meeste
 Emotional lability
- Laughing or crying for no reason
 First respiratory physiotherapy, after those problems it will go to the UL and later to the LL
 Geen afasia

3. RESPIRATORY ONSET
 Zeer zeldzaam
 Weakness of respiratory muscles
 Dyspnoea, orthopnoea, morning headache
 Following with upper limb, trunk weakness
 First symptom is shortness of breath especially while sleeping o P is lying down = weakness of diaphragm
- Difficulty falling to sleep and continuing to sleep
- CO2 levels are rising -> brain centres pick this up and the patient will wake up
- Morning headache due to the rising CO2 levels
 Hypoventilatie tijdens slapen
 Zeer lage levensverwachting
 Gaan aan vent. Moeten & nadien kome er nog voedingsproblemen bij

ALS VARIANTS

 Niet gediagnostiseerd met ALS in die fase
- Diagnose kan witchen bij progressie/ over tijd

1. PRIMARY LATERAL SCLEROSIS – PLS
 Only upper motor neuron involvement
 75% of all patients evolve to ALS within the first 4 years, if not longer survival
 Could evolve to ALS in the first years
 Corticospinal and corticobulbar tract involvement
 slowly progressive, survival 3-30 years

2. PROGRESSIVE MUSCULAR ATROPHY – PMA
 Only lower motor neuron involvement
 flail arm or leg syndrome
 Progression to ALS first 4 years if not better survival
 Mean survival 4y, could be quicker or slower progressive then ALS
 Could be both of the legs or both of the arms
 Flail leg – gait parameters
- Hyperextension of the knees -> paresis of hamstrings and quadriceps
- Drop foot: they fall down, he is not able to activate the TA eccentrically


 Flail arm – gait parameters

Nala Melis Pagina 2

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