Amyotrophic lateral sclerosis is a chronic progressive degenerative disease that affects both the upper motor neurons (brain, brainstem, spinal cord) and the lower motor neurons (cranial nerve nuclei, anterior horn cells of the spinal cord), as well as the trunk, limbs, and head and facial muscles they control. Clinically, it often manifests as mixed paralysis resulting from combined damage to both upper and lower motor neurons.

bubble_chart Diagnosis

1. History and Symptoms:

1. More common in middle-aged and elderly individuals over 40 years old, with a male-to-female ratio of approximately 3:2. The onset is slow and progresses gradually.
2. Characterized by a combination of upper limb peripheral paralysis, lower limb central paralysis, and mixed symptoms of upper and lower motor neuron damage.
3. Bulbar palsy symptoms, such as dysarthria, dysphagia, and coughing when drinking, may occur if the posterior cranial nerves are affected.
4. Sensory impairment is usually absent.

Cranial Nerves: In addition to bulbar palsy, manifestations may include tongue muscle atrophy, tongue fasciculations, forced crying or laughing, and emotional instability. Upper limbs often exhibit distal-dominant muscle atrophy, particularly in the thenar, hypothenar, and interosseous muscles, accompanied by fasciculations, with normal sensation. Lower limbs present with spastic paralysis, increased muscle tone, hyperreflexia, and positive bilateral pathological reflexes. Respiratory muscle involvement may lead to dyspnea.

3. Auxiliary Examinations:

1. Lumbar Puncture and Cerebrospinal Fluid Analysis: Pressure and composition are usually normal.
2. Serum creatine phosphokinase may be elevated, as well as acetylcholinesterase.
3. Electromyography: May show fibrillation potentials and giant potentials, with motor nerve conduction velocity typically normal.
4. MRI: May reveal spinal cord atrophy and degeneration corresponding to the clinically affected muscles.

Sometimes requires differentiation from cervical spondylosis, high cervical spinal cord tumors, spinal arachnoiditis, etc.

bubble_chart Treatment Measures

There is no effective treatment, and symptomatic management is the main approach.

1. For those with difficulty breathing, provide oxygen and assist with ventilation if necessary.
2. For those with difficulty swallowing, use nasogastric feeding or intravenous hyperalimentation to maintain nutrition and water-electrolyte balance.
3. Neurotrophic drugs: Citicoline 250–500mg, Muscular Injection Solution 4ml, Adenosine Triphosphate (ATP) 20–40mg, Basic Fibroblast Growth Factor (bFGF) 1600u, intramuscular injection 1–2 times/day; Citicoline Disodium (Meiluning) 20mg intramuscular injection, once/day.
4. Trihexyphenidyl 2mg 3 times/day or Baclofen 50–100mg/day orally can alleviate or improve muscle rigidity and increased muscle tone caused by upper motor neuron damage.
5. Prevent and manage complications, prevent joint stiffness and contractures by adhering to appropriate physical exercise and physiotherapy. Prevent pulmonary infections.