Textbook Reading

AMYOTROPHIC LATERAL SCLEROSIS

By : Theodorus Kevin Hendartono

Lecturer : Prof. dr. MI Widiastuti, PAK, Sp.S(K), MSc

What is Amyotrophic Lateral Sclerosis (ALS)?

A-myo-trophic (Greek)

A = No / negative
Myo = Muscle
Trophic= Nourishment
No Muscle Nourishment

Lateral = Defines location of the nerve cells that signal and control the
muscles

Sclerosis = Scarring and hardening in the degenerating region

Introduction
Amyotrophic Lateral Sclerosis (ALS):

Neurodegenerative disease
Sign of Upper Motor Neuron (UMN) and Lower Motor Neuron
(LMN) in one patient
Without notable sensory loss
Introduction
1. Motor neuron disease

3. Lou Gehrigs disease

2. Charcots disease
Epidemiology
The most common form of motor neuron disease
Peak age onset is 58 to 63 years of age
Prevalence around 2,7 / 100.000 people
Sporadic forms account for about 90 95% of ALS cases
Famillial forms make up approximately 5 10%
Slight male predominance for sporadic ALS
Epidemiology
Classification of ALS
Famillial ALS (FALS)
5 10% of ALS cases
Gen mutation of Cooper Zinc Superoxide dismutase (CuZn SOD1)
Autosomal dominant

Sporadic ALS (SALS)

90 95% of ALS cases
The etiology still unknown
Abnormal glutamate metabolism
Other Classification
Based on Clinical Manifestation:
Etiology of ALS
ANATOMY: UPPER MOTOR NEURON

Cerebral Cortex
Pyramidal Tract
ANATOMY: LOWER MOTOR NEURON

-motoneuron extrafusal
-motoneuron intrafusal
Nerve Cell and Muscle in ALS
Pathogenesis of ALS
Pathogenesis of ALS
Clinical Manifestations
First signs and symptoms
(frequently overlooked)
Twitching and cramping of
muscles (especially in hands and
feet)
Stiffness
Weakness (especially in hands,
arms and legs)
Slurred speech
Clinical Manifestations
Later signs and symptoms:
Difficulty chewing and swallowing
Shortness of breath
Muscle weakness due to wasting
away of muscles
- Causes muscles to become smaller
Paralysis
Respiratory failure

Patients usually only live 3 to 5 years

after they are diagnosed
Clinical Manifestations
Neurological Examinations
Bulbar Upper Motor Neuron Lower Motor Neuron
Dysarthria Hyperreflexia Weakness
Dysphagia Spasticity Muscle atrophy
Sialorrhea (Drooling) Babinsky sign Fasciculation
Tongue atrophy Jaw jerk
Tongue Fasciculation Snout reflexes
Spread of reflexes
Incoordination
Weakness
Revised El Escorial World Federation of Neurology
World Federation of Neurology (WFN)
Diagnostic Evaluation
Workup to rule out other neurological diseases includes:
Electrodiagnostic tests: electromyography (EMG)
TMS
X-Rays including MRI
Myelogram of the cervical spine
Blood and urine studies including, thyroid and parathyroid hormone levels,
24 hour urine for heavy metals, and high resolution serum protein
electrophoresis
Spinal tap (lumbar puncture)
Muscle and/or nerve biopsy
Diagnostic Evaluation: Electromyography
Differential Diagnosis
Other Motor Neuron Diseases Neurodegenerative Diseases
Primary lateral sclerosis (UMN only) Parkinsons, Progressive Supranuclear
Progressive muscular atrophy (LMN only) Palsy, MS
Progressive bulbar palsy Malignancy
Neuropathies Primary/mets CNS
GB, CIDP Motor neuron syndromes with MM,
Lymphoma, lung, breast
Myopathies Toxic Exposure
PM, inclusion body myositis
EtOH, heavy metals
Neuromuscular Junction Endocrine
Myasthenia gravis
TSH, adrenal, pituitary
Infectious
HIV, CMV
Current Treatment
There is still no effective cure for this disease
The management of ALS need to coordinated
with multidisciplinary care, including:
specialist
physicians
pharmacists
physical and occupational
speech therapists
nutritionists
social workers
home care nurses
The treatments for ALS are designed to relieve
symptoms and improve the quality of life for
individuals with the disorder
Medications
Only one agent (Riluzole) that slows the progression of ALS
Riluzole is believed to reduce motor neuron damage by decreasing the
release of glutamate
Symptomatic therapy :
Muscle relaxant, anti depression, anti cholinergic agent, NSAID
Supportive therapy :
Medical rehabilitation, occupasional therapy, healthy nutrition, ventilation
support

There was no statistical evidence for a different response to treatment in

patients with FALS compared to those with SALS
Complications
Respiration: respiratory failure (3-5 years).
Nutrition: dysphagia malnutrition, dehidration, pneumonia
aspiration
Dementia:
Frontotemporal dementia (10-15 % with motoric paralysis
Frontotemporal Dementia Motor Neuron Disease/FTD-MND).
Alzheimer's disease
Prognosis
ALS is a progressive and incurable disease.
The life-threatening aspects of ALS are neuromuscular respiratory
failure and dysphagia.
The life expectancy of people with ALS is mostly three to five years
after diagnosis.
Only about 10% of people with their condition will be survive for > 10
years
I am quite often asked: How do you feel about having ALS? The answer is, not a lot. I try to lead as normal a life
as possible, and not think about my condition, or regret the things it prevents me from doing, which are not that
many. - Stephen Hawking