Other NM Disorders

• Motor Unit Disease


  • ALS
  • Post Polio Syndrome
• Peripheral Neuropathies


  • Guillain Barre Syndrome
  • Diabetic Polyneuropathy
• Neuromuscular junction


  • Myasthenia gravis
  • Lambert-Eaton Syndrome
• Neurodegenerative Disease


  • Huntington's Disease
  • Parkinson Disease
• Amyotrophic Lateral Sclerosis (ALS)


  • Amyotrophy- muscle atrophy
  • Lateral- involving lateral (and anterior) corticospinal tracts
  • Sclerosis- glial cell proliferation and hardening
  • Affects UMN, LMNs and Cranial Nerves (Bulbar)
• ALS is the most physically devastating of the neurodegenerative diseases
• ALS is a progressive neurodegenerative motor neuron disease that affects the motor neurons in the spinal cord, brainstem, and brain
• Incidence of ALS is 2 per 100 000 adults
• Causes of ALS


  • Sporadic (90%)
  • Familial (10%)
• Familial ALS


  • Autosomal dominant
  • Early onset
  • Most common genes (>30 identified): C9orf72 (40%), Superoxide dismutase gene mutation (20%)
• Pathogenesis of ALS


  1. Destruction of Upper Motor Neurons (UMNs)

  2. Destruction of Lower Motor Neurons (LMNs)

  3. Possible Causes: Excitotoxicity, Excess Glutamate, Oxidative damage, Free radicals

  4. Other Possible Areas Impacted by Neuronal Loss: Frontotemporal cortex, Thalamus, Basal Ganglia/Substantia Nigra, Spinocerebellar tracts, Dorsal columns
• Lower Motor Neuron Symptoms in ALS


  • Asymmetric, usually distal weakness
  • Extensors weaker than flexors
  • Cervical extensor weakness (head droop)
  • Bulbar signs: CN IX-XII affected at nuclei or nerve
  • Hyporeflexia
  • Hypotonicity
  • Atrophy
  • Muscle cramps
  • Fasciculations
• Upper Motor Neuron Symptoms in ALS


  • Spasticity
  • Hyperreflexia / Clonus
  • Pathological reflexes (Babinski, Hoffmann)
  • Muscle weakness: Extensors UE, Flexors LE
  • Pseudobulbar palsy: corticobulbar tract
• As ALS progresses, UMN signs may decrease
• Bulbar Symptoms in ALS


  • Pseudobulbar Palsy (spastic)
  • Bulbar palsy (flaccid)
  • Presentation: Dysarthria, Dysphagia, Sialorrhea, Pseudobulbar affect
  • Most Common Cranial nerve nuclei affected: V, VII, IX, X, and XII
  • Ocular mm usually spared
• Areas preserved in ALS


  • Eye movements
  • Bowel and bladder
  • Sensory system
  • Cognition (50% preserved)
• Early Signs of ALS


  • Insidious asymmetrical weakness of distal aspect of one limb
  • Cramping with volitional movement –early morning stiffness
  • Muscle fasiculations- spontaneous twitching of muscle fibers
• Late Manifestations of ALS


  • Respiratory complications respiratory failure
  • Oral motor complications (chewing, tongue mobility, swallowing) risk of aspiration
• Diagnosis of ALS


  • Clinical presentation: UMN and LMN signs
  • EMG: Fibrillations, Fasiculations, Low-amplitude polyphasic potentials
  • Muscle biopsy- denervation atrophy
  • Muscle enzymes- CPK-creatine phosphokinase levels elevated
  • Normal CSF
  • No changes on myelogram
• Medical Management of ALS


  • Riluzole – first FDA approved drug: Inhibits glutamate, may have neuroprotective effect, but NOT cure
  • Radicava (edaravone): Targets oxidative stress
  • Symptom Management: Anticholinergic – drooling, Baclofen / diazepam – spasticity, PEG tube for proper nutrition due to dysphagia, Invasive and non-invasive ventilation
• Prognosis of ALS


  • Onset before age 50 may have slower progression
  • Survival 2-5 years from symptom onset
  • Respiratory compromise (pneumonia)
  • Bulbar onset more rapidly progressive vs Limb onset
  • NG/PEG and ventilation may prolong life
• Relyvrio (AMX0035) is a new ALS drug approved in 2022 that works to prevent motor neuron death by acting on the endoplasmic reticulum and mitochondria
• Relyvrio has been shown to significantly reduce the rate of functional decline in people with ALS and increase life expectancy by 6.5-10 months
• As of March 2024, the confirmatory Phoenix trial for Relyvrio did not show statistical significance in slowing functional decline, but it continues to have potential in other neurodegenerative diseases like Progressive Supranuclear Palsy
• Rehabilitation settings for people with ALS


  • Outpatient
  • Homecare
  • Inpatient
  • SNF
• The closest Certified Treatment Center of Excellence to Buffalo for ALS is in Syracuse
• Those with ALS in multidisciplinary care lived 7.5 months longer than those attending a general neurology practice
• PT Examination for people with ALS


  • ROM, motor function (MMT), tone (MAS), cranial nerve integrity (V, VII, IX, X, XII), sensory function, cough effectiveness, chest expansion, respiratory sounds, integumentary integrity
• Body Function/Structure Impairments assessed in PT for people with ALS


  • Functional independence with mobility related tasks, including bed mobility, transfers, gait (10MWT, 6MWT), balance (Berg Balance Scale)
• Activity Limitations assessed in PT for people with ALS


  • QOL measures, may include ALS Assessment Questionnaire (ASLAQ-40), Fatigue Severity Scale
• Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R)


  Evaluates 12 areas of function: Speech, salivation, swallowing, handwriting, cutting food and handling utensils, dressing and hygiene, turning in bed, walking, climbing stairs, dyspnea, orthopnea, breaking, respiratory insufficiency. Each area scored 0-4 with lower score related to worse function.
• ALS Assessment Questionnaire-40 (ALSAQ-40)


  Includes 5 dimensions of health: Mobility, ADLs, Eating, Drinking, Emotional functioning. Rated 0-100 with higher score reflecting more impairment related to ALS.
• Symptomatic Management Considerations in PT for people with ALS


  • Sialorrhea, Dysphagia, Communication, Respiratory issues, Pain, Mental Health, Cognitive implications
• Management of Sialorrhea and Dysphagia in ALS


  • Sialorrhea: Anti-cholinergic medications, Suction
  • Dysphagia: Nutrition Management, Swallowing assessment, PEG tube placement
• Management of Communication Impairments in ALS


  • Dysarthria: Speech strategies, environmental modifications, low-tech to high-tech devices including eye gaze technology
• Management of Respiratory Impairments in ALS


  • Pulmonary Function Tests every 3 months, Non-invasive positive pressure ventilation, Invasive ventilation, Hospice-care
• Management of Pain, Muscle Cramps and Spasticity in ALS


  • Hydration, Nutrition, Stretching, Anticonvulsants, Benzodiazepines, NSAIDs, Opioids
• Management of Anxiety and Depression in ALS


  • Counseling, SSRIs, Tricyclic antidepressants, Benzodiazepines
• Mortality rates were found to be 6.8x greater in those with ALS experiencing psychological distress compared to those without
• Cognitive Impairments seen in ALS


  • ALS-Frontotemporal Dementia (ALS-FTD): Cognitive decline, executive functioning impairments, difficulty with planning, organization, and concept abstraction, personality and behavior changes
  • Others without ALS-FTD: difficulties with verbal fluency, language comprehension, memory, abstract reasoning, and generalized impairments in intellectual function