Spinal muscular atrophy (SMA) is a serious genetic disease that primarily affects the muscles. Due to this disorder, muscle weakness and weakness increase. In this blog, we will learn in detail what are the symptoms of spinal muscular atrophy, its types, and how it is diagnosed and treated.
What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a genetic disease that affects motor neurons. Motor neurons are nerve cells that send signals from the brain and spinal cord to muscles. SMA causes a decrease in the number of these neurons, leading to muscle weakness and atrophy (shrinking of the muscles).
Types of spinal muscular atrophy-
SMA is generally divided into four main types based on the severity of its symptoms and the age of onset:
1 (infantile disease or Werdnig-Hoffmann disease)
Age of onset: Within six months of birth.
symptoms: Severe muscle weakness, breathing problems, weak crying and difficulty swallowing.
Life expectancy: Without treatment, most children do not survive past the age of two.
2. (Early childhood)
Age of onset: Between six months and 18 months.
symptoms: Muscle weakness, inability to stand or walk independently, breathing problems.
Life expectancy: Patients with this type usually survive into their teens or beyond.
3. (Juvenile disease or Kugelberg-Welander disease)
Age of onset: After 18 months, sometimes in adolescence.
symptoms: Difficulty walking, difficulty climbing stairs, slowly progressive muscle weakness.
Life expectancy: Normal life expectancy, but fragility increases with age.
4. (appearance in adulthood)
Age of onset: Adulthood.
symptoms: Slowly progressive muscle weakness, difficulty walking, but little effect on life expectancy.
Life expectancy: Normal life expectancy.
What are the symptoms of spinal muscular atrophy?
Symptoms of SMA depend on its type and severity, but some common symptoms include:
1. muscular weakness
2respiratory problems
3. Difficulty walking and standing
4. difficulty swallowing
5. weak cry and poor animation
6. delayed engine milestones
conclusion:
Spinal muscular atrophy (SMA) is a serious and complex genetic disease that causes muscle weakness and wasting. Its symptoms can vary depending on the type and severity, but prompt diagnosis and appropriate treatment can improve quality of life. Patients can be treated with treatment options such as genetic testing, physical therapy, respiratory support, and nutritional management.
People living with SMA and their families need appropriate support and information. Through this blog, we hope you have received holistic and comprehensive information about the symptoms, diagnosis, and treatment of spinal muscular atrophy. If you have any questions or concerns about this disorder, please consult your healthcare professional.
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