Despite the progress in the field of medical science, the cause and cure of certain diseases remain shrouded in mystery. One such ailment that affects infants and children is spinal muscular atrophy (SMA). There are three types of SMA, and out of these, distal spinal muscular atrophy type 1 is the most formidable. It is usually diagnosed in the first six months of life and, unfortunately, has a poor prognosis. Children diagnosed with distal spinal muscular atrophy type 1 are always at the risk of developing complications that can worsen their already fragile conditions.

Distal spinal muscular atrophy type 1 is a serious condition, and the fact that there are no proper treatment methods for the same makes it more challenging.

What is distal spinal muscular atrophy type 1?
Distal spinal muscular atrophy type 1, also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is an inherited condition that is characterized by the weakening of the muscles, leading to respiratory failure that usually begins in infancy. The symptom of this condition surfaces between the ages of six weeks and six months, and it is imperative to know that children and adults experience the symptoms of this condition differently.

What are the causes of distal spinal muscular atrophy type 1?
As mentioned earlier, the distal spinal muscular atrophy type 1 is an inherited condition. The child develops this condition when it receives two copies of the broken gene from each parent, and this prevents the body from producing a particular type of protein, which is instrumental in controlling the muscles. Without this protein, the cells that control the muscles die, due to which the child experiences a sudden inability to breathe. This occurs since the muscles that separate the abdomen from the chest cavity is paralyzed.

What are the symptoms of distal spinal muscular atrophy type 1?
Children who are affected by distal spinal muscular atrophy type 1 depict the following symptoms.

• Children with this condition have hypotonia (low muscle tone) and low muscle strength. Thus, they are called “floppy” babies since they cannot handle their own body weight.
• Moreover, a baby diagnosed with this condition cannot support or lift its head and cannot roll over or sit upright since its muscles are quite weak.
• They experience difficulty in swallowing their own saliva or milk, and the effort to do so often makes them cough. Since they cannot feed properly, they cannot gain weight; this, in turn, results in weakness. This condition results in a vicious circle that weakens the child either way.
• Babies with distal spinal muscular atrophy type 1 have a weak cry and face breathing issues due to their weak muscles.

Irrespective of the fact that this condition is quite severe, it doesn’t affect the brain. So, the child’s mental health remains unaffected.