Spinal muscular atrophy type 1, Werdnig Hoffmann disease or infantile-onset SMA that Portuguese baby Matilde suffers from is a rare and severe congenital disease that causes a mutation of the SMN1 gene that manufactures the SMN protein that is important for the survival of neurons. motors that control muscle movement. The life expectancy of affected babies does not usually exceed two years although improvements in respiratory care and nutrition have increased the life expectancy of those affected.
The most common cause is the genetic inheritance of the SMN1 gene mutation from both parents. It may also occur, although the percentage is minimal, that the mutation is ‘novo’, that is not due to genetic inheritance but appears for the first time in the affected baby.
Symptoms of spinal muscular atrophy type 1
Muscle weakness and poor muscle tone
Symptoms of spinal muscular atrophy type 1 appear between 0 and 6 months. The earlier the manifestation, the more severe the prognosis usually is since muscular weakness of the respiratory muscles can lead to respiratory failure that is fatal. Signs of infantile-onset SMA are:
– Poor muscle tone.
– Progressive muscle weakness.
– Lack of motor development.
– Minimal or absent facial weakness.
– Muscular contractions of the tongue.
– Postural tremor of the fingers.
– Mild contractures, often in the knees and rarely in the elbows.
– Absence of tendon reflexes.
– There is no sensory loss.
– Alert appearance.
– Normal intelligence.
Diagnosis of spinal muscular atrophy type 1
It is based on a physical examination, monitoring of motor difficulties, and genetic testing.
The physical examination and monitoring of motor difficulties in addition to symptom control will confirm, together with the genetic examination to detect the existence of the SMN1 gene mutation, the diagnosis of spinal muscular atrophy type 1.
Spinal muscular atrophy type 1 treatment and medication
Pharmacological management of the effects of muscle weakness, respiratory care, nutritional assistance and rehabilitation
There is no cure, but the treatment of spinal muscular atrophy type 1 is aimed at pharmacological management of the effects of muscle weakness with drugs such as Onasemnogene abeparvovec, whose trade name is Zolgensma; or the injection of nusinersen in the space where the fluid that surrounds the spinal cord is with which milestones have been achieved such as maintaining head control, sitting, the ability to kick, roll from one side to another, crawl, stand standing and walking. In addition, respiratory care, nutritional assistance and rehabilitation are applied.
Spinal muscular atrophy type 1 prevention
There is no
No prevention measures have been described against spinal muscular atrophy type 1.
