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Ms. NR (40 year old, Female), Screenshot 2025-01-21 at 10.43.04 - Coggle…

- - - - Physical exam: Slow and stiff gait, intact sensory systems and CNII-XII
        
        D(x) of Amyotrophic lateral sclerosis (ALS) following blood test, EMG study, and pulmonary function test
        
        Q: What is the nature of ALS? (presentation, differential diagnosis, pathophys)
        
        Pathophysiology
        
        Degeneration of pyramidal Betz cells in motor cortex, anterior horn cells of spinal cord, and lower cranial motor nuclei of brain stem --> Gliosis --> atrophy of spinal cord and associated muscles
        
        Differential Dx:
        
        LMN degeneration of ALS can mimic: benign fasciculations, inclusion body myopathy, and multifocal motor neuropathy
        
        UMN degeneration of ALS can mimic: MS, myasthenia gravis, late onset Tay-Sachs disease
        
        Presentation
        
        Coexisting upper & lower motor neuron symptoms
        
        UMN sx: dysarthria & dysphagia
        
        LMN sx: muscle atrophy & fasiculations
        
        Q: What is the role of medical advancements in ALS management?
        
        patients may designate a conservator to manage healthcare or financial decisions if they are incapacitated, can appoint a HCR to make medical decisions on their behalf if they are unable to do so, and POLST for clear instructions and what Ms. NR would and would not want for life-sustaining treatments
        
        Clinical trials looking at neural progenitors that can become astrocytes and release glial cell line-derived neurotrophic factor to ultimately protect motor neurons
        
        Safety of intravenous application of T cells meant to slow ALS progression
        -Infusing ALS patients’ own bone marrow stem cells into their spinal fluid
        
        Therapies to improve quality of life include PT, OT, speech therapy, respiratory therapy
        
        Q: What end-of-life care resources and strategies exist for someone living with a disease with poor prognosis in Connecticut?
        
        Health Care Representative
        
        Advanced Directives: living will & DNR instructions
        
        Treatment Plan
        
        Referral to Neuromuscular Care Center
        
        Q: What role do facilities like the Neuromuscular Care Center play in the treatment and management of care for patients with an ALS diagnosis?
        
        Multidisciplinary care: gold standard for neuromuscular diseases, especially those that are debilitating.
        
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        Riluozole
        
        Q: What is the nature of targeted drug therapy for ALS?
        
        Tofersen is targeted to treat ALS associated with the SOD1 gene mutation (under accelerated approval by the FDA)- Ms. NR has a known mutation but we are not told which one
        
        Riluzole is thought to block NMDA receptors and inhibit VG-Na+ channels to decrease excitotoxicity. Has been shown to slow progression by a few months. This is not a specifically targeted drug and thus can have a range of side effects.
        
        Palliative Care
        
        Hospice Care
        
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      - Knees buckle
      - "I feel like I might fall"
- - - - FMLA (enacted 1993) provides job-protected leave to employees
        
        Requires employee have worked with employer for at least 12 months
        
        Qualifications: Serious health condition (illness, injury, impairment, or physical or mental condition) tht entails a chronic condition that requires at two visits/year to a health care provider, continues over an extended period, and causes episodic incapacity. Also permanent or long-term incapacity resulting from a condition for which treatment may not be effective