Amyotrophic Lateral Sclerosis (ALS)

ALS is a progressive neurodegenerative disease affecting upper and lower motor neurons, leading to muscle weakness, atrophy, and respiratory failure. While a cure does not yet exist, early intervention, multidisciplinary care, and emerging therapies can extend survival and improve quality of life.

Symptoms

• Progressive limb weakness, clumsiness, fasciculations
• Muscle cramps, spasticity, hyperreflexia
• Dysarthria (slurred speech), dysphagia (difficulty swallowing)
• Respiratory shortness of breath, orthopnea
• Emotional lability (pseudobulbar affect)
• Cognition typically preserved, but frontotemporal dementia occurs in ~15%

Diagnosis

• Clinical exam showing UMN + LMN signs in multiple body regions
• Electromyography (EMG) and nerve conduction studies
• MRI brain/spine to exclude mimics (myelopathy, tumors, MS)
• Laboratory tests for mimicking conditions (thyroid, B12, autoimmune, infections)
• Genetic testing (C9orf72, SOD1, TARDBP, FUS) in familial cases

Treatment & Management

Disease-Modifying Therapies

• Riluzole: modestly slows progression
• Edaravone (IV/oral): slows decline in selected patients
• Tofersen for SOD1-mutated ALS (antisense oligonucleotide)
• Combination regimens (AMX0035) under study/approval in some regions

Symptom Control

• Spasticity: baclofen, tizanidine
• Sialorrhea: anticholinergics, botulinum toxin, radiation to salivary glands
• Pseudobulbar affect: dextromethorphan/quinidine
• Cramps: mexiletine, gabapentin
• Pain management, mood/anxiety treatment

Respiratory & Nutrition

• Non-invasive ventilation (BiPAP) prolongs survival
• Mechanical insufflation-exsufflation for secretion clearance
• Monitor FVC, SNIP, MIP; discuss tracheostomy when appropriate
• Early PEG feeding tube to maintain weight and reduce aspiration

Assistive Technologies

• Power wheelchairs, orthotics, custom splints
• Augmentative and alternative communication (eye-tracking devices, speech-generating apps)
• Smart home adaptations (voice-controlled lights/locks)

Multidisciplinary Care

• Neurology, pulmonology, PT/OT, speech therapy, nutrition, palliative care, social work
• Advance care planning, clinical trial discussions

Living with ALS

• Track muscle strength, respiratory metrics, nutrition, devices, symptoms
• Plan home modifications (ramps, lifts) early
• Seek caregiver support and respite resources
• Connect with ALS associations for equipment loans and grants
• Consider clinical trials and genetic counseling for family

Complications

• Progressive respiratory failure
• Malnutrition/dehydration
• Communication barriers
• Caregiver burnout, financial strain

Research & Future Directions

Promising areas include gene therapy, stem cell replacement, neuroinflammation modulation, and biomarkers predicting response.

Experimental & Emerging Treatments

• Gene Silencing: Antisense oligonucleotides (tofersen, BIIB105) for genetic subtypes; CRISPR approaches under investigation.
• Stem Cell Therapies: Intrathecal MSCs or neural stem cells aim to protect motor neurons.
• Neuroinflammation Modulators: Microglial-targeted drugs and complement inhibitors.
• Brain-Computer Interfaces (BCIs): Restore communication/mobility through implanted or external systems.

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Medical Disclaimer: Informational only. Work with your neurologist/multidisciplinary ALS clinic for diagnosis confirmation, treatment planning, and access to clinical trials or assistive technology. Sources: ALS Association, American Academy of Neurology, Muscular Dystrophy Association