Decreased respiratory effort: Central nervous system impairment leads to decreased respiratory effort. The respiratory center of the brain is located in the pons and medulla and is primarily driven by elevated carbon dioxide levels in the blood (hypercapnia) with decreased oxygen levels (hypoxemia) serving as a less potent stimulus. Central nervous system disorders, such as stroke and tumors, may cause hypoventilation. Drugs may decrease respiratory effort as well, such as opioids, sedative-hypnotics, and alcohol. These lower respiratory drive by blunting the response of the respiratory center of the brain to hypercapnia. Metabolic disorders could also decrease respiratory effort. Hypoglycemia and hypotension depress the central nervous system and compromise the respiratory system. Respiratory muscle weakness: Neuromuscular disorders may lead to respiratory muscle weakness, such as spinal cord injury, neuromuscular diseases, and neuromuscular blocking drugs. Respiratory muscle fatigue can also lead to respiratory muscle weakness if patients breathe over 70% of their maximum voluntary ventilation. Breathing over an extended period of time near maximum capacity can cause metabolic acidosis or hypoxemia, ultimately leading to respiratory muscle weakness. Diagnosis
Diagnosis requires clinical evaluation, as detailed below. Initial assessment
After determining the scene is safe, approach the patient and attempt to converse with him or her. If the patient responds verbally, you have established that there is at least a partially patent airway and that the patient is breathing (therefore not currently in respiratory arrest). If the patient is unresponsive, look for chest rise, which is an indicator of active breathing. A sternal rub is sometimes used to further assess for responsiveness.
Juvenile primary lateral sclerosis, also known as primary lateral sclerosis (PLSJ), is a very rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. The disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms and signs
Symptoms of JPLS begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they become more serious and include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk. Genetics
juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, parents of affected individuals each carry one copy of the altered gene, but do not show any signs or symptoms.Mutations in the ALS2 gene, found on chromosome 2, are responsible for causing juvenile primary lateral sclerosis. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene in this disorder disrupt the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly.