Case Study 242 - Spinal Muscular Atrophy Type 4 | Explained by Dr Betsy Grunch
Description: Case Study 242 - Spinal Muscular Atrophy Type 4
August is Spinal Muscular Atrophy (SMA) Awareness Month. SMA is a genetic neuromuscular disorder that affects the motor neurons, the nerve cells responsible for controlling voluntary muscle movement. Over time, the loss of these neurons can lead to progressive muscle weakness and atrophy.
SMA Type 4 is the rarest and typically the mildest form. Unlike the more severe types that present in infancy or childhood, Type 4 usually begins in adulthood, often after age 30. Symptoms can include slowly progressive muscle weakness, particularly in the hips, thighs, shoulders, and upper arms, as well as muscle twitching or tremor.
Because the symptoms can be subtle and develop gradually, adults with SMA Type 4 may go years before receiving the correct diagnosis.
SMA is caused by abnormalities involving the SMN1 gene, which results in inadequate production of survival motor neuron (SMN) protein, something motor neurons need to function and survive.
Advances in genetic testing and targeted therapies have completely changed the landscape of SMA, making earlier recognition and diagnosis more important than ever.
#SMAAwarenessMonth #SpinalMuscularAtrophy #casestudy242 #SundayCaseStudy #LadySpineDoc Close description
August is Spinal Muscular Atrophy (SMA) Awareness Month. SMA is a genetic neuromuscular disorder that affects the motor neurons, the nerve cells responsible for controlling voluntary muscle movement. Over time, the loss of these neurons can lead to progressive muscle weakness and atrophy.
SMA Type 4 is the rarest and typically the mildest form. Unlike the more severe types that present in infancy or childhood, Type 4 usually begins in adulthood, often after age 30. Symptoms can include slowly progressive muscle weakness, particularly in the hips, thighs, shoulders, and upper arms, as well as muscle twitching or tremor.
Because the symptoms can be subtle and develop gradually, adults with SMA Type 4 may go years before receiving the correct diagnosis.
SMA is caused by abnormalities involving the SMN1 gene, which results in inadequate production of survival motor neuron (SMN) protein, something motor neurons need to function and survive.
Advances in genetic testing and targeted therapies have completely changed the landscape of SMA, making earlier recognition and diagnosis more important than ever.
#SMAAwarenessMonth #SpinalMuscularAtrophy #casestudy242 #SundayCaseStudy #LadySpineDoc Close description