Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease)
Norma Cervera, PT, DPT, MBA

History

Descriptions of the disease date back to at least 1824 by Charles Bell.In 1869, the connection between the symptoms and the underlying neurological problems (involvement of corticospinal tract) were first described by Jean-Martin Charcot, who in 1874 began using the term amyotrophic lateral sclerosis.It became well known in the United States when it affected the famous baseball player Lou Gehrig, and later when the ice bucket challenge became popular in 2014.

Definition of the Disorder¹

 Motor Neuron Diseases/Anterior Horn cell disease
 Progressive neuromuscular disorder
 Upper motor neuron & lower motor neuron involvement/degeneration
 Affects motor neurons
 Cerebral cortex, brain stem, spinal cord

DEMOGRAPHICS OF ALS¹
 Most common motor neuron disease
 Mean life expectancy from onset to death 2-4 yrs
 20% live beyond 5yrs
 5% of those diagnosed had it before they were 47 yrs old
 Incidence peaks btw 55 & 75 years of age
 Sporadic ALS
      Most common in men
      Yearly incidence ~ 1-2 per 100,000
 Familial ALS
       Autosomal dominant
       Ratio 1:1 (men to women)
       Mean age onset 47 years of age
       Represents 5-10% of all ALS occurrences
ETIOLOGY¹
 UNKNOWN ETIOLOGY
 NO CURE

Impairments Associated w/ ALS¹

 Muscle weakness
 Presenting symptom in 60% of cases
 Weakness distal to proximal
 Weak/atrophied muscles cannot be strengthened
 Associated symptoms
 Muscle cramps, fasciculation, respiratory and swallowing difficulty

 Upper motor Neuron (UMN) degeneration
      Muscle weakness
      Spasticity
      Pathological reflexes (Babinski’s sign & Hoffmann’s sign)
      Pseudobulbar palsy (impaired cranial nerves IX-XII)
      UMN no longer inhibits LMN

 Lower Motor Neuron (LMN) Degeneration
      Increase muscle stretch reflexes
      Spasticity
      Exhibited primarily in UE flexors & LE extensors
      Clonus
      Muscle Atrophy
      Flaccid Muscles
      Hypo-reflexia
      Fasciculation

Diagnosis

• With the exception of one genetictest, no definitive diagnostic test or biological marker exists for ALS.
• El Escorial Criteria for diagnosis of ALS (revised):

The diagnosis of Amyotrophic Lateral Sclerosis (ALS) requires-

A - the presence of:

1. evidence of lower motor neuron (LMN) degeneration by clinical, electrophysiological or neuropathologic examination,
2. evidence of upper motor neuron (UMN) degeneration by clinical examination, and
3. progressive spread of symptoms or signs within a region or to other regions,as determined by history or examination,

B - the absence of:

electrophysiological and pathological evidence of other disease processes that might explain the signs of LMN and/or UMN degeneration, and

1. neuroimaging evidence of other disease processes that might explain the observed clinical and electrophysiological sign
   

Clinically Definite ALS- clinical evidence alone by the presence of UMN, as well as LMN signs, in three regions.

Clinically Probable ALS- clinical evidence alone by UMN and LMN signs in at least two regions with some UMN signs necessarily rostral to (above) the LMN signs.

Clinically Probable with Laboratory support ALS- clinical signs of UMN and LMN dysfunction are in only one region, or when UMN signs alone are present in one region, and LMN signs defined by EMG criteria are present in at least two limbs, with proper application of neuroimaging and clinical laboratory protocols to exclude other causes.

Clinically Possible ALS- clinical signs of UMN and LMN dysfunction are found together in onlyone region or UMN signs are found alone in two or more regions; or LMN signs are found rostral to UMN signs and the diagnosis of Clinically Probable - Laboratorysupported ALS cannot be proven by evidence on clinical grounds in conjunction with electrodiagnostic, neurophysiologic, neuroimaging or clinical laboratory studies. Other diagnoses must have been excluded to accept a diagnosis of Clinically possible ALS.

(Clinically Suspected ALS is a pure LMN syndrome, wherein the diagnosis of ALS could not be regarded as sufficiently certain to include the patient in a research study. Hence, this category is deleted from the revised El Escorial Criteria for the Diagnosis of ALS.)

Treatment of ALS ²

 The authors found that it is difficulty to start timely therapeutic measures due to lack of specific biological markers to identify ALS.
 Authors speculate that major advances in ALS will be from gene based therapy
 Including viral vectors to deliver genes, drugs, and growth factors
 Clinical application
     Difficult to apply all treatment options to a condition that is progressive and terminal
     Interdisciplinary care and Symptomatic measures are the best route for a clinician to educate pt & caregiver on progression of the disease and measure to take for best quality of life

Treatment Approach #2³
 Role of PT and OT
 Treatment to maximize
    Mobility
    Comfort
    Equipment fulfillment
    Activity adaptation
    Pt/Fam education
    HEP (i.e. exercise/ ROM/ spasticity management)
    To recognize the importance of PT/OT in improving quality of life for individuals with ALS
    Decrease lack of edu in healthcare of goals & benefits of PT & OT
The author found it was very important to address
 Assistive devices, transfer aides, splinting, bracing, neck supports, mobility devices (wheelchairs), home modifications, community access, and family/caregiver edu
 Key is to teach energy conservation techniques to promote quality of life
 Teaching caregiver/fam on simple things such as use of gait belts, slide board , mechanical lift, and importance of energy requirements for the individual with ALS to promote energy conservation techniques when applicable
 Teach caregiver/fam importance of ROM and appropriate positioning strategies to minimize contractures and pain

 Clinical application
    PT/OT are key to the educational process for both pt & caregiver to promote quality of life
    Aside from just addressing physical aspect, clinician needs to address psychological aspects too

COMPLEMENTARY & ALTERNATIVE MEDICINES (CAM)⁴
 Specific treatments for ALS as complementary or alternative medicine have not be researched specific to the disease
 Research shows initiative to integrate CAM services for chronic diseases
 CAM that can be used for ALS patients include acupuncture, naturopathy, massage, and possibly Western herbal medicine.
 Research has demonstrated that in order to implement CAM, there has to be an understanding of the holistic capacity & mind-body benefits for chronic diseases

Future direction of treatment management⁵
 ALS progress and prospective treatments
    Animal models
    Transgenic animals- facilitate research in molecular events that lead to motor neuron death to be able to study new models for ALS RXs
    Human studies
 Ongoing research on the following to find markers or leads for treatments:
    Excitotoxicity
    Oxidative stress
    Mitochondrial damage
    Apoptosis
    Inflammation
    Neurotrophic factors
    Cytoskeletal defects
 Clinical trails (present)
    Anti-Glutamate Drugs (TOPAMAX) current tx for ALS
    Anti-Oxidants
    Anti-Apoptotic Agents
    Energy stimulators
    Neurotrophic Agents
 There is no cure & researchers agree that there needs to be a way for early diagnosis and a need to find biological markers
 “ALS is a complex interaction of more than one factor and combination therapy is undoubtedly the way forward.”
 Telerehabilitation⁶
     An option for patients with chronic diseases
     Can provide education via telecommunication
     An option to assist with pain management & energy conservation

Prevention efforts for ALS^3,5
 Continued animal model research
 Human studies on Pharmacological agents
 Finding early detection biological markers
 Continued efforts to find to cure

CONCLUSION
 From a therapy standpoint, they key to better quality of life for people with ALS is education and empowering them and their caregivers/family to know all measures that need to be taken as the disease deteriorates the individual.
 Many challenges exist in conducting quality care for this disorder due to the rapid deterioration of the individual and the expedited need of adjunct care to improve quality of life.

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References
1-Cohen, J.M., Cohler, M., & Bronfin, L. (2011). Chapter 14, Neuromuscular disorders.
InSteven R. Flanagan, Herb Zaretsky, and Alex Moroz (Eds.), Medical aspects of disability.
(4th ed.) (pp. 265-290). New York: Springer Publishing Company.
2-Eisen A, Weber M. Treatment of amyotrophic lateral sclerosis. Drugs & Aging [serial online]. March 1999;14(3):173-196. Available from: CINAHL Plus with Full Text, Ipswich, MA. Accessed June 20, 2014.
3-McCluskey L, Lewis M, Rushanan S. The role of physical therapy and occupational therapy in the treatment of Amyotrophic Lateral Sclerosis. Neurorehabilitation [serial online]. December 2007;22(6):451-461. Available from: CINAHL Plus with Full Text, Ipswich, MA. Accessed June 20,, 2014.
4-Singer J, Adams. Integrating complementary and alternative medicine into mainstream services: the perspectives of health services managers. BMC Complementary & Alternative Medicine. June 2014:14(1):1-21. Available from: CINAHL Plus with Full Text, Ipswich, MA. Accessed July 21, 2014.
5-Dib M. Amyotrophic lateral sclerosis: progress and prospects for treatment. Drugs [serial online]. February 2003;63(3):289-310. Available from: CINAHL Plus with Full Text, Ipswich, MA. Accessed June 21, 2014.
6-Cranen, K., Drossaert, C. C., Brinkman, E. S., Braakman-Jansen, A. M., IJzerman, M. J., & Vollenbroek-Hutten, M. R. (2012). An exploration of chronic pain patients' perceptions of home telerehabilitation services. Health Expectations, 15(4), 339-350.