Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update  Missing: adalah ‎| ‎Must include: ‎adalah. Kenapa penderita SMA biasanya mengalami gangguan pernafasan dan Yang membesarkan hati adalah anak yang menderita SMA. What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle  Missing: adalah ‎| ‎Must include: ‎adalah.


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Spinal Muscular Atrophy

The following splicing modulators have reached clinical stage development: Of discontinued clinical-stage molecules, RG, also known as Quinazoline, was a proprietary quinazoline derivative developed by Repligen and licensed to Pfizer in March which was discontinued shortly after, having only completed phase I trials.

PTK-SMA1 was spinal muscular atrophy adalah proprietary small-molecule splicing modulator of the tetracyclines group developed by Paratek Pharmaceutical and about to enter clinical development in which however never happened.


RG was a molecule akin to RG, developed by Hoffmann-La Roche and trialled on SMA patients inwhose development was put on hold indefinitely due to long-term animal toxicity.

Basic research has also identified other compounds which modified SMN2 splicing in vitrolike sodium orthovanadate [47] and aclarubicin. Oral salbutamol spinal muscular atrophy adalaha popular asthma medicine, showed therapeutic potential in SMA both in vitro [51] and in three small-scale clinical trials involving patients with SMA types 2 and 3, [52] [53] [54] besides offering respiratory benefits.

A few compounds initially showed promise but failed to demonstrate efficacy in clinical trials: Butyrates sodium butyrate and sodium phenylbutyrate held some promise in in vitro studies [55] [56] [57] but a clinical trial in symptomatic people did not confirm their efficacy.

spinal muscular atrophy adalah

Spinal Muscular Atrophy - Muscular Dystrophy South Australia, Adelaide

Hydroxycarbamide hydroxyurea was shown effective in mouse models [67] and subsequently commercially researched by Novo NordiskDenmark, but demonstrated no effect on people with SMA in subsequent clinical trials. Aminoglycosides showed capability to increase Spinal muscular atrophy adalah protein availability in two studies.

Olesoxime is a proprietary neuroprotective compound developed by the French company Trophoslater acquired by Hoffmann-La Rochewhich showed stabilising effect in a phase-II clinical trial involving people with SMA types 2 and 3.

Electromyography and muscle biopsy features of denervation were once the basis for diagnosis, but molecular testing for homozygous deletion or mutation of the SMN1 gene allows efficient and specific diagnosis. In combination with loss of SMN1, patients retain variable numbers of copies of a second similar gene, SMN2, which produce reduced levels of the survival motor neuron SMN protein that are insufficient for normal motor neuron function.

Additionally, the affected chromosomes don't spinal muscular atrophy adalah out" after the parents have a certian number of children with SMA.


Each time the parents have a child there is still a Half of the time, the child could have one unaffected and one "SMA" chromosome and be carriers, just like the parents. For more discussion of autosomal recessive inheritance and its application to SMA, spinal muscular atrophy adalah see the links below under the "Genetics" subheading.

Spinal Muscular Atrophy Type 3

In the meantime we will return to the specifics of SMA. More on the Genetics of SMA: There is a vital protein for our motor neurons cells that send the signals from our brain and spinal cord to our musclesspinal muscular atrophy adalah Survival of Motor Neuron, abbreviated SMN.

The primary gene small piece of the chromosome on Chromosome 5 that holds the information needed to make this protein is called SMN1. It is the one that can be mutated to cause Spinal muscular atrophy adalah.

The discussion gets more complicated when we bring in the fact that there are actually two types of genes that can make SMN protein and they both spinal muscular atrophy adalah a role in how serious a person's symptoms will be.


Weight gain and illness can lead to faster muscle deterioration periods. Contractures of the muscles can restrict movement, especially around the hip, knee, and ankle joints. Physiotherapy and occupational therapy can spinal muscular atrophy adalah useful to determine appropriate aids, adaptive equipment, and home, school, or work modifications to allow people to maintain independence, mobility and energy.