Spinal muscular atrophy (SMA) is a generic, lethal condition characterized by an inability to will

More severe symptoms in children with cerebral palsy may result in basically no muscle control, greatly affecting their lives.” (Cogher, Savage & Smith, 1992)

We will not go through the process here, but as an illustration of this “alternate splicing”, remove codons (beads) 52 - 66 from your sentence above.

Spinal muscular atrophy may present itself in various forms, affecting every stage of life. Consequently, this stretches from the affected fetus exhibiting joint contractures, to a young child who cannot independently sit (type I) and to a young

These include motor neuron disease, corticobasal syndrome, progressive supranuclear palsy and FTDP-17 (FTD with parkinsonism linked to chromosome 17).

Duchenne muscular dystrophy is the most common genetic disease fatal in children, it is a severe and rapidly progressive muscle disease with symptoms that first become evident due to the affected child showing early motor developmental delay; for example, presentation of Gower’s sign, a diagnostic indicator of proximal muscle weakness characterised by the affected having to “walk” their hands up their body to stand due to little strength being present in the lower limb.

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Muscular dystrophy is a disease in which muscles become weak over time due to muscular atrophy. Duchenne and Becker

Treatments are a long process, depending on what stage you’re in will indicate how long your treatment may take.

One such disorder is Type II Spinal Muscular Atrophy (SMA). This genetic disorder is an autosomal recessive trait that causes muscular

Symptoms may manifest over a long period (months or years) or very rapidly. There is no specific order, number of symptoms, intensity, or time which SLE symptoms may manifest.

• What is SMA? What gene is mutated? According to Muscular Dystrophy Association (MDA), Spinal Muscular Atrophy (SMA)is define as the loss of nerve cells in the spinal cord called motor neurons.

Introduction : Werding Hoffman disease is the most sever type of the spinal muscular atrophy disease ( SMA ) . It is an autosomal recessive disorder characterized by progressive damage of the anterior horn cells of the spinal cord leading to progressive muscle weakness and generalized atrophy . It is caused mainly by homozygous defect in gene called Survival Motor Neuron 1 ( SMN 1 ) .SMA type 1 is one of the most serious fatal disorder that has high prevalence rate & high carrier frequency .Therefore, carrier testing for SMA is very important to be offered to all couples especially parents of SMA affected children. This test will help in future reproductive planning.

The manifestations of ALS are caused by the location of motor neuron death. When upper motor neurons die, the symptoms include problems controlling fine movements, spasms, dysphagia, dysphonia and dysarthria (Porth & Matfin, 2009). “Manifestations of lower motor neuron destruction include fasciculations, weakness, muscle atrophy, and hyporeflexia” (Porth & Matfin, 2009, p. 1284). Patients with early signs of ALS usually complain of feeling weak on one side, which is due to the slowing of electrical impulses to that group of muscles (Ignatavicius & Workman, 2010). Since the impulses are slowed, they are not receiving adequate electrical stimulation to move and the person feels weak. As the disease progresses, all the motor neurons die and are not regenerated so, the patient is left paralyzed, losing the ability to speak, swallow and breathe (Ignatavicius & Workman, 2010).

Regardless of which occur first, affected individuals will generally experience most of the symptoms as the disease progresses. Specifically, symptoms that include difficulty swallowing, moving, forming words, tight muscles, spasticity, and/or exaggerated reflexes occur when the upper motor neurons have been damaged. When lower motor neurons are damaged, symptoms such as muscle weakness, atrophy, cramping, and twitching will occur. In some cases, a few of the muscle neurons that

This study will be using 8 week old Smn1tm1Hung Tg(SMN2)2Hung mice obtained from the Jackson Laboratory. This specific strain of mice will be selected as they are double mutants; they will have undergone an exon 7 deletion in their SMN1 gene resulting in the development of SMA, and they will have a human SMN2 transgene, since mice do not normally have SMN2 genes. The mice will be homozygous for the SMN1 with the knockout, this is important because over 95% of SMA cases are due to the homozygous deletion of SMN1 genes. They will also be homozygous for the SMN2 transgene as SMN2 hemizygous mice do not survive past 16 days postnatal [The Jackson Laboratory, 2017].