Multiple disease and upset affect the muscle functioning , either forthwith by deflower the voluntary brawn or indirectly by affecting the mettle or neuromuscular join supplying the muscles . All these are grouped under neuromuscular disorders . Spinal muscular atrophy or SMA belongs to this neuromuscular disorder mathematical group and involve continuous muscular wasting and loss of the motor neurons of the dead body . Spinal muscular atrophy or SMA can be disastrous in nature .

Classifications of SMA Disease

Depending on the severity of the protein lack and oncoming of symptoms , the spinal sinewy atrophy is characterise into 4 eccentric : Type 1 , character 2 , case 3 and Type 4 .

SMA Type 1 Disease:

The SMN1 factor variation lead to unnatural protein and the symptoms are present from the clip of birth of a child or if the symptom appear by the age of 6 calendar month , it is classified into SMA type 1 .

SMA Type 2 Disease:

Spinal Multiple Atrophy occurring in children of age between 7 months to one and a half year of age is term as Type 2 Spinal muscular atrophy . These children affected with SMA type 2 are see to have a minimum of 3 SMN cistron 2 in their chromosomes . This group of child is unable to take the air independently . SMA type 2 is also termed as average spinal powerful wasting .

SMA Type 3 Disease:

The SMA affecting the children more than 18 months of age is classify under type 3 . This group of minor can walk and endure on their own .

SMA Type 4 Disease:

SMA Type 4 is recognise to require adult old age mathematical group . It is also called as adult- onset SMA or Kugelberg - Welander disease .

People suffering from SMA Type 3 and character 4 have at least four to nine SMN2 cistron in their chromosome .

What is SMA Type 1 Disease?

SMA type 1 disease is a condition when there is a genetical mutation in SMN 1 cistron lead to abnormal secretion of protein from birth and the symptoms onset before the years of 6 months . This is also term as infantile onrush because of its early onset of symptom or Werdnig - Hoffmann disease . These baby have only two SMN gene 2 present in their chromosomes .

Symptoms of SMA Type 1 Disease

The symptoms of SMA type 1 disease include :

Causes of SMA Type 1 Disease

Spinal Multiple Atrophy is known to go on by deficiency of a protein call SMN ( Survival of motor neuron ) protein . SMN cistron 1 is present in both the pair of chromosome 5 in human body . The mutation of this gene leads to production of operational SMN protein which are of small size of it and are not full distance . Another neighboring factor known as SMN 2 cistron is present in the chromosomes which raise the proteins similar to SMN 1 cistron , but these proteins are not functional and are poor in size as compared to the SMN protein by cistron 1 . However , some SMN proteins produce by SMN2 cistron are full length as well as usable in nature . Hence these can even out for the SMN1 gene protein want .

Prognosis of SMA Type 1 Disease

It is observed that most of child suffering with SMA type 1 do not shape up to SMA typewrite 4 level . However , with appropriate care , the character 1 SMA that is soft in nature can survive till adulthood . The progression of SMA type 1 disease is depressed . The severe cases have shown less lifetime expectancy ; however , the treatment to ameliorate the respiratory distraint with advanced management has lower the deathrate rate in tike with SMA type 1 .

Treatment of SMA Type 1 Disease

The direction of SMA or spinal muscular atrophy depends on the severity of the upset . The management admit :

Respiratory Care:

Since it is visualise that respiratory system is the most touched organization in SMA character 1 disease , it is important to make do the respiratory muscles . The ways would include :

Nutrition:

Exercise and Physical Activity for SMA Type 1 Disease:

Since SMA is related to muscle failing , an assisted physiatrics is good to prevent any structural developmental disorders like kyphosis , scoliosis , etc . To assist achieve proper gait , Orthotic devices can be used .

Medications for SMA Type 1 Disease:

Nusinersen , also called as Spinraza , is the medicine used to treat the spinal powerful weakness and is approved by the regulatory authority . It is administered by intrathecal injection to play over the central nervous system directly .