spinal muscular atrophy

The spinal muscular atrophy (AME), spaghettién called childhood motor neurone disease is a group of inherited disorders characterized by a péloss of certain cénerve cells in the méspinal game called motor neurons or céanterior horn lulae.

Motor neurons receive nerve impulses transmitted from the brain to the méspinal game (brainstem) and, at the same time, transmit impulses to the múcenturies to workés of the peripheral nervesérich.

On péloss of motor neurons leads to progressive muscle weakness and péloss of muscle mass (atrophy) of the múmuscles close to the trunk of the body (múproximal sculi), such as shoulders, hips and back.

These múscules are needed to crawl, walk, sit and head control. The types más serious from Spinal Muscular Atrophy can affect the múmuscles involved in eatingón, swallow itóand the breathón.

The Spinal Muscular Atrophy divided into subtypes based onóNo. of age of onset and functionón máxima reached.

The types of SMA 0, 1, 2, 3 and 4 are inherited as genetic disorderséticos recessive carsómicos and are associated with abnormalías (mutations) in the SMN1 and SMA2 genes found on the chromosome 5.

Síntomas

love of type 0

It's the way Iás severe disease and is characterized by decreasedóno fetal movement, anomalousíace in the joints, difficulty swallowing and respiratory failure.

love of type 1

Ebe the type más comúno and alsoéIt is not a severe form of the disease. The niñthe type AME con 1 experience severe weakness before 6 months old and never sit independently.

muscle weakness, Lack of motor development and poor muscle tone are the main clinical manifestations.íunique to the SMA type 1.

The babiesés with the pronóstic más severe have problems sucking or swallowing. Some show breathingón abdominal in the first months of life.

Muscle weakness occurs on both sides of the body and the múeye sculles are not affected.

A tremor of the tongue is often seen. intelligence is normal. The biggestía de niñThose affected die before two toñyou of age, but survival may depend on the degree of functionóno respiratory.