If you find your child struggling to gain weight, be aware and make sure to get your child examined it could be a rare genetic condition called spinal muscular atrophy.
in this article, you’ll read:
- what is the rare genetic condition Spinal Muscular Atrophy (SMA)
- SMA types, treatments, and signs
Spinal muscular atrophy (SMA) is a rare genetic condition (inherited) neuromuscular disorder that causes muscles to weaken and waste away.
Motor neurons, which control muscular movement, are lost in people with SMA. Muscles do not receive nerve signals that cause them to move if motor neurons do not exist. Smaller is a medical term for atrophy.
What are the different types of spinal muscular atrophy?
There are numerous forms of SMA that affect children. They differ in terms of the age at which symptoms first arise, the severity of symptoms, and how symptoms worsen. Among the several kinds of SMA are:
SMA is classified into four types:
- Type 0. This is the most uncommon and dangerous type. This type of newborn may suffer joint or cardiac problems or respiratory issues. Many babies die within 6 months of birth.
- Type 1. (Werdnig-Hoffman syndrome or infantile-onset SMA). This is a severe form of SMA that might be present at birth. Infants have difficulty holding their heads up, sucking, eating, and swallowing. They usually move quite slowly. The child makes worm-like movements with his or her tongue.
- Type 2. (intermediate SMA). This type of SMA is common in children aged 6 to 18 months. Type 2 children exhibit general muscular weakness.
- Type 3. (Kugelberg-Welander syndrome or mild SMA) Symptoms might develop in children aged 2 to 17 years. These children exhibit clumsiness, difficulty walking, and minor muscle weakness. They could be experiencing delayed motor development. Children with type 3 diabetes live into their adulthood.
SMA symptoms can be like those of other medical diseases. Make an appointment for your child to see a doctor for a diagnosis.
Ways to diagnose spinal Muscular Atrophy (SMA)
SMA can be difficult to diagnose at times. The child’s symptoms, past health, and family health history will be discussed with the healthcare provider. Or your child can be tested physically.
- Blood and saliva tests. tests are done through the children after birth. this Test to evaluate levels of a muscle enzyme may be performed on older children (CK).
- Electromyogram (EMG). The electrical activity of a muscle or set of muscles is measured with this test. An EMG can reveal abnormal electrical muscle activity caused by nerve and muscle disorders.
- A muscle biopsy. A healthcare expert takes a small sample of muscle for this test and examines it under a microscope.
Spinal muscular atrophy treatment in children
SMA has no cure. The treatment’s aims are to:
- Prevent respiratory issues in children with weakened breathing muscles.
- If necessary, provide breathing assistance using a machine (ventilator).
- Provide nutritional support to children.
- It may assist children with SMA to reach motor milestones that would not be possible without therapy.
- Consult your child’s health professional to see if there are any clinical trials that you should consider.
- Discuss with your child’s healthcare professionals the risks, benefits, and potential adverse effects of all therapy.
Spinal muscular atrophy during pregnancy?
Prenatal testing can detect if the growing fetus has SMA if you are pregnant and have a family history of the condition. These tests raise the chance of miscarriage or pregnancy loss somewhat. SMA prenatal testing includes:
- Amniocentesis is a procedure in which your obstetrician inserts a thin needle into your abdomen to extract a little amount of fluid from the amniotic sac. A pathologist (lab specialist) examines the fluid for SMA (14th week of pregnancy).
- Chorionic villus sampling (CVS) is a procedure in which your obstetrician extracts a tiny tissue sample from the placenta via your cervix or stomach. CVS can occur as early as the tenth week of pregnancy.
What are the side effects of spinal muscular atrophy?
People with SMA have gradual muscle weakness and loss of muscle control over time. Among the possible complications are:
- Scoliosis, hip dislocation, and bone fractures (curvature of the spine).
- Pneumonia and respiratory illnesses are common.
- Weak lungs and respiratory issues may necessitate breathing assistance (ventilation).
What can I do to avoid spinal muscular atrophy?
SMA is a hereditary condition. A genetic counsellor can discuss the possibility of your child developing SMA or being a carrier if you or your spouse possesses the faulty gene that causes SMA.
Preimplantation genetic diagnosis (PGD) is a procedure that identifies embryos that do not carry defective genes. However, during in vitro fertilisation, your doctor implants healthy embryos (IVF). PGD guarantees that your child will have two healthy SMN1 genes and will not have SMA.
Also read: Stranger Swoops in With $1.5M Donation To Help Save Baby With Rare Genetic Disorder
