Spinal Macular Atrophy:  Seeing every stage of a child's development is a proud moment for parents. Whether it is learning to sit or walk, every step is special. Although some delay in development is normal, some signs like not being able to sit straight or problems in leg movement can be a sign of a serious disease. Let us know from Dr. Priyanshu Mathur (State Nodal Officer for Rare Diseases and Associate Professor, Pediatric Medicine, SMS Medical College, Jaipur) which disease these signs can indicate.

What is Spinal Macular Atrophy?

One such disease is spinal muscular atrophy (SMA). It is a rare genetic disorder that affects motor neurons, leading to progressive muscle weakness. Despite its seriousness, SMA type 1 is often overlooked or misdiagnosed because its early symptoms can mimic other common conditions.

Why is it difficult to find out?

For example, inability to sit upright or maintain head control may be seen as slow development. Similarly, muscle weakness in the arms and legs may be mistaken for low muscle tone, while difficulty eating and swallowing may be seen as common infant reflux or feeding problems.

Even breathing problems, which are common in SMA, are initially mistaken for a common cold or infection. Due to these symptoms and lack of awareness about rare diseases like SMA, it is often too late to diagnose it. This is why parents should not take such signs lightly and contact a doctor if they notice them in their child.

Early symptoms of SMA

Early identification of these symptoms can help children receive timely care and treatment. Some important information about the symptoms of SMA is that infants with SMA type 1 usually show symptoms in their first six months. Respiratory problems such as weak respiratory tissues and underdeveloped lungs are very common symptoms of SMA. Some other symptoms include difficulty swallowing and eating. Scotiosis is also one of the most common symptoms of SMA type 1. The condition also reduces the mobility of patients, causing joints to become stiff or dislocated.

Although SMA is rare, its effects are profound on its patients and their families. Therefore, it is important to pay attention to the symptoms of SMA in children and get timely treatment with the help of a doctor.