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Diagnosis & Treatment

Diagnosis

Diagnosing ALS is difficult and requires extensive testing aimed at confirming or ruling out the disease. The healthcare provider begins with a comprehensive examination, discussing medical history and symptoms, which may include:

  • Weakness, often localized initially
  • Muscle tremors, spasms, twitching, or loss of muscle tissue
  • Common tongue twitching
  • Abnormal reflex responses
  • Stiff or clumsy gait
  • Changes in reflexes at joints
  • Difficulty controlling emotions like crying or laughing (emotional incontinence)
  • Loss of the gag reflex

Diagnostic tests may include:

  • Blood tests to eliminate other potential conditions
  • Breathing tests to assess lung muscle function
  • Cervical spine CT or MRI to rule out neck diseases or injuries mimicking ALS
  • Electromyography (EMG) to evaluate nerve and muscle function
  • Genetic testing, particularly if ALS runs in the family
  • Head CT or MRI to exclude other disorders
  • Swallowing studies
  • Spinal tap (lumbar puncture)
  • Muscle or nerve biopsy in certain cases

These tests and examinations are essential in accurately diagnosing ALS and differentiating it from other conditions.

Treatment

Managing ALS involves several approaches to slow progression and alleviate symptoms. Riluzole (Rilutek) is the only proven medication to slow disease progression, while Edaravone (Radicava) may also help. Many medications are used off-label to address symptoms like spasticity and swallowing difficulties. Other supportive measures include:

  • Physical therapy, rehabilitation, and assistive devices like braces or wheelchairs for muscle function
  • Nutritional support, potentially including the use of a feeding tube, with guidance from a dietitian specializing in ALS for healthy eating advice
  • Breathing support devices, such as nocturnal machines or continuous mechanical ventilation
  • Medications for depression as needed

While there is currently no cure for ALS, these treatments and ongoing research trials aim to enhance quality of life and manage symptoms effectively.

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