This document discusses several neuromuscular disorders including Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS), Spinal Cord Injury, Huntington's Chorea, and Spinal Muscle Atrophy. It provides details on ALS such as the pathophysiology, signs and symptoms, course of the disease, etiology, epidemiology, diagnosis, treatment, and complications. Comparisons are made between ALS and other disorders such as MS, Spinal Cord Injury, Huntington's Chorea, and Spinal Muscle Atrophy.

1. Neuromuscular Disorders
Amyotrophic Lateral Sclerosis (ALS)
Multiple Sclerosis (MS)
Spinal Cord Injury
Huntington’s Chorea
Spinal Muscle Atrophy

2. Neuromuscular Disorders
• When there is a disorder of neuromuscular function
the ability to carry out skilled movement that
requires skeletal muscles to contract and neural
pathways to plan, coordinate, and execute the
contractions in a manner that provides smooth,
purposeful, and coordinated movement is hindered
• Neuromuscular disorders results in:
▫ Purposeless and disrupted movements
▫ May be almost as disabling as a relative or complete
absence of movement

3. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Disorder & Pathophysiology
▫ Commonly called Lou Gehrig’s Disease
▫ Progressive disease with a sporadic onset
▫ In ALS upper motor and lower motor neurons
degenerate and die
▫ Specific areas that ALS attacks are the motor
neurons in anterior horn of spinal cord; motor
nuclei of the brainstem specifically hypoglossal
nuclei; and UMN of cerebral cortex
▫ The death of these motor neurons disrupts
communication between the nerve and muscle
▫ Muscles atrophy and exhibit twitching

4. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Signs & Symptoms
▫ Initial signs are usually overlooked
▫ What is affected depends on the area of UMN and LMN that are attacked
first
▫ Most notable symptoms observed are muscle twitching, cramping,
stiffness, and/or weakness
▫ If the disease attacks the lower extremities most clients experience
awkwardness when running or walking
▫ Exhibit poor balance and are prone to tripping
▫ If the disease attacks the upper extremities dexterity issues become
apparent
▫ Difficulties in opening cans, buttoning a shirt, or turning a key are
among the first warning signs
▫ If the disease attacks muscles of speech difficulty speaking can occur.
Signs include slurring and nasal speech.
▫ Difficulty swallowing will also occur

5. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Course
▫ Muscles of upper/lower extremities
▫ Muscle weakness progresses to muscle paralysis
▫ Muscles of speech and mastication
Initially speech will be slurred
Later difficulty chewing or swallowing(Dysphagia)
▫ Internal organs begin to shutdown as the disease
progresses
▫ Disease travels in a centripetal direction (disease is
more extensive in distal parts of the affected tracts in
the lower spinal cord rather than proximal)
▫ Death occurs within 2-5 years of diagnosis

6. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Etiology
▫ Cause of sporadic ALS is largely unknown
▫ It most likely involves a combination of genetic
and environmental factors
▫ Autoimmune response
▫ 5-10% of individuals with ALS have a familial form
of the disorder, which is caused by an inherited
genetic mutation
▫ 4 types of ALS that have been described by
researchers

7. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Epidemiology
▫ 20,000-30,000 cases diagnosed in the United
States
▫ Approximately 5,000 new cases every year affect
individuals of all races and ethnicities
▫ Onset often occurs between the ages of 40-60
▫ Men are more likely to be affected than women

8. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Medical Diagnosis
• Look For Signs of UMN Damage:
▫ Muscle Spasticity
▫ Contra-Lateral Paralysis
▫ Hyper Reflexia
▫ Slow Disuse Atrophy
▫ Increased Deep Tendon Reflex
• Signs of LMN Damage:
▫ Muscle Fibrillation
▫ Denervation Atrophy
▫ Flaccid Paralysis
▫ Hypotonia
• Tests:
▫ Electromyography (EMG)
▫ Blood Test
▫ Nerve Conduction Velocity (NCV)
▫ Muscle Biopsy
▫ CT Scan
▫ MRI
▫ Genetic for Familial Forms
▫ Medical History
http://neuromuscular.wustl.edu/pathol/a
lsmusc.htm

9. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Treatment
▫ No Cure
▫ Drug Treatment (Riluzole)
▫ Antispasmodic Medications
▫ Plasmaphresis
▫ Physical Therapy
▫ Occupational Therapy
▫ Speech Therapy
▫ Physicians
▫ Nutritionist

10. Amyotrophic Lateral Sclerosis (ALS)
Disorder Table
• Complications/Precautions
▫ Pressure sores
▫ Choking
▫ Pneumonia
▫ Breathing difficulties
▫ Eating difficulties
▫ Excessive phlegm
▫ Fatigue
▫ Spasticity
▫ Dementia
▫ Depression

11. Story of the Life of an Individual with
ALS
• http://www.youtube.com/watch?v=TYRhR97U
DRU

12. Additional Video
• http://www.youtube.com/watch?v=tPaYHLrT9s
Q&feature=youtu.be

13. Article: The Role Of Physical Therapy & Occupational
Therapy In The Treatment of Amyotrophic Lateral
Sclerosis
• ALS is a progressive neuromuscular disease for which there is no cure.
• There is a general misunderstanding among healthcare professionals of
the proper use and potential benefits of physical and occupational
therapy to treat the symptoms and resulting loss of independence.
These services can help maximize mobility and comfort through
equipment prescription, activity adaptation, patient and family
education, and the use of appropriate exercise and range of motion
techniques.
• The literature is controversial on the prescription of exercise in this
population. Individual muscle strength, fatigue and spasticity must all
be taken into account when discussing exercise with persons with ALS.
• It can be concluded that physical and occupational therapy intervention
is beneficial to persons with ALS. However, more research is needed to
decisively determine the effects of exercise on person with ALS.

14. Spinal Muscular Atrophy-(SMA)
• Genetic neuromuscular disease
characterized by muscle atrophy and
weakness.
• SMA is an autosomal recessive genetic disease
• Generally manifests early in life and is the
leading genetic cause of death in infants and
toddlers.
• SMA is caused by defects in the Survival
Motor Neuron 1 (SMN1) gene that encodes
the SMN protein.
• SMA is believed to affect 10,000 to 25,000 children
and adults in the United States
• One is 6,000 to one in 10,000 children are born
with the disease.
• One in 50 people (approximately 6 million
Americans) are carriers of the SMA gene.
• Different types of SMA-
▫ Type I (Most Severe):Werdnig-Hoffmann
disease- evident before birth with reduction in
fetal movement during the final months of
pregnancy.
▫ Type II: usually becomes apparent between 3
and 15 months of age.
▫ Type III: Kugelberg-Welander disease,
appears between 2 and 17 years of age
▫ Kennedy syndrome: Also known as
progressive spinobulbar muscular atrophy,
clinical onset between 15 and 60 years of age.
▫ Congenital SMA with Arthrogryposis:
This is a rare disorder characterized by
persistent contracture of joints
(arthrogryposis) evident at birth.
▫ Adult SMA: This disorder may begin between
40 and 60 years of age and progresses rapidly,
with an average life expectancy of about 5 years
from the onset of symptoms. Most cases prove
to be variants of amyotrophic lateral sclerosis
(ALS, commonly called Lou Gehrig's disease).
•http://www.smafoundation.org/

15. Spinal Muscular Atrophy Compared To
Amyotrophic Lateral Sclerosis
Similarities Differences
• Both degenerative Neuromuscular
disease affecting motor neurons
which for Type I SMA ultimately
lead to death.
• Both have several different types of
the disease: Later onset SMA
displaying with exact symptoms of
ALS, and the life expectancy is
approximately 5 years.
• Both lead to muscle atrophy
• Both exhibit: slurred speech,
weakness, breathing difficulties,
difficulty swallowing
• There is no cure for either
• SMA is hereditary and both parents
must be carriers of gene for the
offspring to be affected.
• SMA can be diagnosed early as fetal
state where ALS is diagnosed in
adulthood.
• Affects both women and men
equally depending on whether each
parent carries the gene
• Mostly affects children (Type I)
• For some types of SMA life
expectancy is unaffected; where ALS
always leads to death of the
individual.

16. Multiple Sclerosis (MS)
• Multiple sclerosis (MS), a demyelinating disease
of the CNS, is the most common nontraumatic
cause of neurologic disability among young and
middle-aged adults
http://www.nytimes.com/interactive/2008/12/03/health/healthguide/TE_MULTIPLESCLEROSIS.ht
ml

17. Multiple Sclerosis Compared To
Amyotrophic Lateral Sclerosis
Similarities Differences
• Rehabilitation can benefit both
disorders
▫ Rehab for ALS can increase
survival time
▫ Rehab for MS can help
manage symptoms
• Both disorders share similar
symptoms including: speech &
swallowing impairments,
decreased muscle strength,
and fatigue
• ALS occurs nearly twice as often in
men compared to women
• MS occurs nearly twice as often in
women than men
• ALS has a mean survival period of
2-5 years from onset of symptoms
• MS does not have a definitive
survival period; individuals can live
for decades
• Cause of upper motor neuron
(UMN) and lower motor neuron
(LMN) destruction in ALS is
unknown
• MS is generally believed to be an
immune-mediated disorder that
occurs in genetically susceptible
individuals

18. Spinal Cord Injury Compared To
Amyotrophic Lateral Sclerosis
Similarities Differences
• Loss of function
• Disrupted communication
between nerves and muscles
• Dexterity issues
• ALS progression to muscle
paralysis and SCI limited/no
muscle function below point of
injury
• Causes are environmental
factors
• Affects more men than women
• There is not a definitive cure for
either
• ALS progresses slowly where
SCI is due to direct injury
• With rehabilitation, SCI can
show improvement in function,
ALS gets progressively worse
• ALS allows for some function as
symptoms progress and SCI,
depending on the level of injury,
has little to no function from the
start
• Etiology of SCI known through
what injury was sustained.
• No genetic mutation associated
with SCI

19. Huntington’s Chorea Compared To
Amyotrophic Lateral Sclerosis
Similarities Differences
• Progressive neurological diseases
• Onset is sporadic
• Impairments in voluntary movements
such as walking, speaking, eating etc.
which will effect the persons ability to
work, perform daily activities,
communicate, and be independent
• Can both cause dementia
• It is possible to be caused
genetically
• Effects individuals of all races and
ethnicities
• No cure, use drug treatment and
multidisciplinary approach
• Similarities in the way the doctor
checks for symptoms
• HD causes neuronal degeneration of the basal ganglia’s
striatum where ALS effects UMN and LMS
• HD effects areas of the brain responsible for higher
mental functions, movement, and sensation. ALS
disrupts communication between never and muscle
causing muscle atrophy
• HD not only effects movement but it effects you
cognitively, behaviorally·
• Death occurs within 2-5 years of ALS, adult onset HD
15- 20 years
• ALS effects muscle straight away, HD causes emotional,
cognitive, and motor disturbances· 4 types of ALS, 2
types of HD
• Generally ALS is caused by genetic along with
environmental factors and autoimmune response·
• With ALS more men are affected than woman
• ALS is Dx through signs of UMN/LMN damage
• ALS Not tested for genetically whereas Huntingtons

20. Spinal Cord Atrophy Compared To
Amyotrophic Lateral Sclerosis
Similarities Differences
• Both affect the motor neurons
in the brain
• Both lead to muscle atrophy
• Both exhibit: slurred speech,
weakness, breathing
difficulties, difficulty eating
• Hereditary
• Affects mostly children

21. References
• ALS (Amyotrophic Lateral Sclerosis) Fact Sheet. (2010). Retrieved from
April 1, 2012,
http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_A
LS.htm
• Genetics Home Reference: Your guide to understanding genetic conditions
(Amyotrophic Lateral Sclerosis). (2012). Retrieved from April 1, 2012,
http://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis
• Gujar, S. K., Maheshwari, S., Bjorkman-Burtscher, I., & Sundgren, P. C.
(2005). Magnetic resonance spectroscopy. Journal of Neuro-
Ophthalmology, 25(3), 217-226.
• Porth, C.M. (2007). Essentials of pathophysiology: concepts of altered
health states. (2 ed., pp. 809-811). Philadelphia, PA: Lippincott Williams &
Wilkins.
• Reese-Walter, J. (January, 2012). Neuromotor System Disorders [ Power
Point Slides]. Retrieved from:
http://webctce.nova.edu/SCRIPT/35488201230/scripts/serve_home