🧠 Neurological Disorder

Amyotrophic Lateral Sclerosis

Also known as: ALS, Lou Gehrig's Disease, Motor Neurone Disease

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control. ALS is often called Lou Gehrig's disease, after the baseball player who was diagnosed with it.

ICD-10: G12.21 Orphanet: ORPHA803 OMIM: 105400
👥 2 to 5 per 100,000 Prevalence
🔬 156 Active Trials

ALS is a disease where the nerve cells that control muscles slowly stop working. This makes it harder and harder to move, speak, and eventually breathe. Scientists are working very hard to find treatments, and new medicines are helping people live longer and better lives.

Signs & Symptoms

  • Muscle weakness in limbs
  • Difficulty walking and tripping
  • Hand weakness and clumsiness
  • Slurred speech
  • Difficulty swallowing
  • Muscle cramps and twitching
  • Difficulty holding head up
  • Emotional changes (pseudobulbar affect)
  • Respiratory failure
  • Weight loss

Treatment Options

MEDICATION FDA Approved

Riluzole (Rilutek)

MODERATELY EFFECTIVE Approved 1995
MEDICATION FDA Approved

Edaravone (Radicava)

MODERATELY EFFECTIVE Approved 2017
MEDICATION FDA Approved

Relyvrio (sodium phenylbutyrate/taurursodiol)

MODERATELY EFFECTIVE Approved 2022
MEDICATION FDA Approved

Tofersen (Qalsody) - for SOD1-ALS

HIGHLY EFFECTIVE Approved 2023
SUPPORTIVE FDA Approved

Non-invasive ventilation

HIGHLY EFFECTIVE
THERAPY FDA Approved

Physical and occupational therapy

MODERATELY EFFECTIVE
GENE THERAPY

Gene therapy (clinical trials)

EXPERIMENTAL

Diagnosis

  • Electromyography (EMG)
  • Nerve conduction studies
  • MRI of brain and spine
  • Blood and urine tests (to rule out other conditions)
  • Lumbar puncture
  • Muscle biopsy
  • Genetic testing (for familial ALS)

History

ALS was first described by Jean-Martin Charcot in 1869. The disease gained public attention when baseball legend Lou Gehrig was diagnosed in 1939. The 2014 Ice Bucket Challenge raised over $220 million for ALS research. The identification of the SOD1 gene in 1993 opened the door to understanding genetic causes and developing targeted therapies.

Recent Breakthroughs

2023

First gene-targeted therapy approved

FDA approves tofersen (Qalsody) for SOD1-ALS, the first therapy targeting a genetic cause of ALS.

2024

C9orf72 antisense trials advance

Clinical trials for antisense oligonucleotides targeting C9orf72 repeat expansion show promising results.

2023

Stem cell therapy progress

Neural stem cell transplantation studies demonstrate safety and potential slowing of disease progression.