One in 10,000 newborns worldwide has spinal muscular atrophy (SMS), a rare and devastating genetic neurodegenerative disease that leads to progressive muscle wasting, paralysis and, untreated in its most severe form (type I), death.
Without treatment, type I spinal muscular atrophy leads to death or the need for permanent ventilation within two years in more than 90% of cases. In cases of type II MAS, more than 30% of patients will die by the age of 25.
In Europe, AMS represents a significant burden on the health system e the cumulative costs of medical care per child are between 2.5 and 4 million euros, only in the first 10 years of life. In the absence of official statistics, in Romania it is estimated that several hundred patients, of all ages, suffer from this disease.
Signs of spinal muscular atrophy
Spinal muscular atrophy is a devastating disease due to its life-threatening characteristics, with irreversible neurological damage.
The first signs of AMS are usually identified by 3 months of age, but the diagnosis can be made as early as 6 months after birth. The most common signs of the disease in children are:
- Weak head control
- Weak arms / legs, no strength
- to cry/ weak cough
- Rapid and abdominal breathing
- Difficulty swallowing
- Difficulty sitting without support
- Slow physical development or inability to roll over
As a pediatric neurologist, I stress that it is very important that the patients, the children, reach the specialists as soon as possible. This is only achievable if the newborn’s parents and our colleagues in other specialties (neonatologists, pediatricians, family doctors) notice the signs and symptoms of the disease early.
It would be ideal to undergo a newborn screening for the diagnosis and treatment of AMS as soon as possible, so that the loss of motor neurons and the progression of the disease can be stopped. But, since newborn screening is not yet a routine practice in Romania, the best solution is to increase the information of the general population and especially of young parents, towards early recognition of the signs of the disease and referral to a specialist. And the website www.semnealeams.ro has exactly this goal, to bring correct, useful and balanced information to those concerned, says pediatric neurologist Nina Butoianu, representative of the Romanian Society of Pediatric Neurology.
Treatment and care of patients with spinal muscular atrophy
Currently, treatment is generally supportive and aims at prolonging life and increasing its quality.
Preparing families to act in emergency situations, as well as physiotherapy or physical therapy, are pillars in the management of this condition.
From the point of view of pharmacological treatment, in recent years, several options have appeared, all authorized by the European Medicines Agency.
The last few years have brought an incredible evolution in the methods of diagnosis, management and treatment of the disease, so that together with doctors we can defeat spinal muscular atrophy. The fight is strategic, neonatal screening for treatable diseases, including spinal muscular atrophy, is the first and wisest thing to do, because the diagnosis and treatment (any of the three approved in Romania) in the paucisymptomatic phase changes completely the quality of life, both for patients who will be born with this disease, as well as for their entire family, explains Bogdana Căvăloiu, representative of the Association for the help of people suffering from spinal muscular atrophy.
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