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
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
