Living with Spinal Muscular Atrophy: Navigating the emotional pathway of the condition

One in every 7,744 live births, or roughly 3,200 Indian infants each year, are found to have SMA in India.

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For those who are diagnosed, as well as their families and carers, the disorder has the potential to have a profound emotional impact.(File)

By Dr. Anaita Hegde

Mira is a five-year-old mischievous kid, who is interested in just playing and be as naughty as she can be like any other kid her age. However, she is suffering from a rare hereditary condition known as spinal muscular atrophy (SMA) which doesn’t allow her to live and play as she likes.

Spinal muscular atrophy (SMA) is a condition that damages the motor neurons in charge of commanding the voluntary muscles. Without treatment, SMA causes the person’s muscles to waste away because motor neurons are crucial for maintaining skeletal muscular function. When muscles are weak, it might be difficult to walk, eat, or breathe, which are among life’s most fundamental activities.

Shilpa, Mira’s mother, had a typical pregnancy, but she first became aware that something was not right when Mira was about three to four months old. She had reflux, a faint cry, shaky hands, and she couldn’t support any weight on her legs. It later became known to Mira’s parents that these were symptoms of Spinal Muscular Atrophy.

One in every 7,744 live births, or roughly 3,200 Indian infants each year, are found to have SMA in India. The disease can be classified into Type 0, Type 1, Type 2, Type 3, and Type 4 according to the physical milestones attained and the age at which it first manifests. 1 Some kids with SMA might not develop their major motor milestones—like rolling over, sitting, and walking—by these ages.

For those who are diagnosed, as well as their families and carers, the disorder has the potential to have a profound emotional impact. Living with SMA and adjusting to the diagnosis can be difficult emotionally, but with the right services and support, it is possible to control the emotional impacts.

Diagnosis of SMA

The emotional journey of SMA typically begins with the diagnosis. It can be overwhelming to learn that you have a rare ailment that could change your life, and it’s usual for people and families to feel a variety of emotions like shock, denial, anger, and despair. It’s critical to give yourself permission to deal with these feelings and to enlist the assistance of loved ones, friends, and medical professionals.

Physical examination and family history are typically the initial stages in diagnosis, along with a few quick tests to rule out other illnesses that may be comparable to spinal muscular atrophy (SMA) (such as muscular dystrophy). The earliest symptoms that should cause concern for SMA in infants are hypotonia and muscle weakness. Additional symptoms, such as a history of motor issues, a loss of motor abilities, proximal muscle weakness, hyporeflexia (lack of reflexes), tongue fasciculations (involuntary spasms), and symptoms of low motor neuron illness, can also aid to establish the diagnosis.

Electromyogram (EMG), muscle biopsy, genetic testing, and blood tests can all be used to identify spinal muscular atrophy.

Living with SMA

Coping with SMA can be difficult, but life can become a little easier with the right care and support. Each person with SMA experiences the condition differently, and each person’s progression may differ. Some people with SMA may require assistance with daily activities such as dressing, grooming, and eating, while others may have more significant challenges with mobility and breathing.

How does SMA type affect daily living?

Based on a person’s genetic makeup and how the disease presents itself, spinal muscular atrophy has historically been divided into the following types:

  • Type 0 or prenatal SMA: This type of SMA begins in the womb. It is almost always fatal in the first months of life if untreated.
  • Type 1 SMA starts within the first few months of life. Without therapy, infants with this SMA type cannot lift their heads or sit unaided; they usually lose their ability to breathe on their own and typically pass away by the age of two.
  • Type 2 SMA starts in young children between the ages of 6 and 18 months. Children who are not treated have shorter lifespans and are unable to stand or walk without assistance.
  • Type 3 SMA starts in childhood. If left untreated, children with this form of sickness may lose the ability to walk by the time symptoms manifest. They typically can walk by the time symptoms manifest.
  • Type 4 SMA reveals itself in adulthood. When the illness worsens, patients may have muscle weakness and a decreased capacity to walk.

Newer treatment options like risdiplam, gene therapy & nusinersen have dramatically changed outcomes and life quality for many people with SMA. So, even people with severe forms of SMA are likely to have a significantly different experience today than they had earlier.

Physical therapy, medicine, and other treatments can help someone with SMA live a long and active life. While some SMA patients may need specialised medical care, many with milder forms can anticipate living as long as someone without the condition.

(The author is a Director – Neurosciences, NH SRCC Children’s Hospital, Mumbai. The article is for informational purposes only. Please consult medical experts and health professionals before starting any therapy, medication and/or remedy. Views expressed are personal and do not reflect the official position or policy of the

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First published on: 28-02-2023 at 09:00 IST
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