Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,

Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits

In the past, infants who were diagnosed with SMA typically did not survive more than two years. Today, physicians believe SMA to be more of a continuum and prefer not to make predictions about the prognosis of the disease based on symptoms at onset, as it is more variable.

This is most often done with a small blood sample which is used to prepare DNA. If the person does not have the disease, the DNA they got from the blood test can be used to determine if the person carries the mutation for the genetic disorder.Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning (D'Amico,2011). It is also recommended to have carrier testing done if a family that has a child with SMA is planning on having another child. DNA or genetic testing can also be used to determine if your unborn baby has inherited a genetic disorder, this called prenatal genetic testing. Having a genetic test done will be able to tell if the parents, the child or other children have or carry the mutation for SMA.Unfortunately, there is no cure for SMA. Treatment depends on age and how bad the symptoms are. The goal of treatment is to relieve specific symptoms, maintain function and enhance a child's mobility for as long as possible, and maximize the child's independence and quality of life (Izenberg, 2016).Children with SMA have care all of their lives from many different types of doctors. Counseling and support groups help the children and parents understand and deal with what has happened. Many children need some type of breath support as well. Though there is no cure at the moment, there is so much research going on to figure out how to stop this horrible

The symptoms from this disorder are weakness, trouble breathing, & usually for children death after two years. Most children died after two years after having type 1 SMA.

However, the disease progresses to the point that the children have difficulty rising from the floor and have an obvious waddling gait. This decline in motor strength remains linear. The symptoms accentuate themselves between the age of 3 and 8. On average, functional ability declines rapidly after age 8. By their 9th year some become confined to the wheelchair and by their 12th year most cannot remain ambulatory (Clinical pediatric neurology, Pg. 182). Other symptoms include large and rubbery calf muscles and in Duchenne muscular dystrophy an IQ that is significantly lower than the average, the mean IQ of affected children being of only 85. More importantly the pelvic weakness that prevented them from rising from the floor can increase to such a degree that breathing becomes difficult and some patients can die of chocking.

Some effects of this disease includes axial muscle weakness, crooked spine as well as respiratory insufficiency

Metatropic dysplasia is inherited and can be passed down, meaning that is its autosomal dominant. It is also possible that there will be reoccurrences between siblings, though it is variable over time. Testing of the TRPV4 gene is available through CTGT and other corporations that specialize in genetic sequencing. Prenatal ultrasound scans will show narrow spinal canals and shortening of long bones and the supporting structure. Treatment of metatropic dysplasia after birth is possible but its effectiveness varies from each case and it is often an aggressive and labor intensive path to follow. Doctors’ main goals for patients with MTD are to establish satisfactory respiratory and pulmonary functions as well as reducing the amount of skeletal deformity. This may require several surgeries that have their own risks and outpatient treatment plan. If doctors can keep patients with MTD alive for longer periods of time, they will be able to determine which methods of treatment are the most effective. Since this is a genetic mutation, each case will require their oun unique set of tests, since there may be more than one contributing

genetic analysis to study the role of the Smyd1b gene in the skeletal and cardiac muscular

Spinal Muscular Atrophy (SMA) is a disorder primarily associated with deletions or mutations in Chromosome 5 which leads to deficiency of motor neuron protein called SMN or “survival of motor neuron”, located on Chromosome 5, this protein is necessary for motor neuron function (Sumner, 2007). SMA involves degeneration of spinal motor neurons which results to global hypotonia, lung problems, autonomic and bulbar dysfunction.

Prognosis for a child with scoliosis can be like any other teen, and most can look forward to normal active lives. The outcome would depend greatly on the severity, age and amount of time left for bone growth (Scoliosis Research Society, 2016). Early diagnosis and treatment can significantly improve the outcome for the child. Furthermore, idiopathic scoliosis does not typically result in pain or neurological problems. The spinal curve itself does not put pressure on the lungs or heart, so it would be abnormal for the patient to experience shortness of breath or pain (Scoliosis Research Society, 2016). If this occurs, it is important for the patient to receive medical treatment.

Autosomal recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions such as mRNA transport. Cell culture and animal models have helped to define the disease mechanism and to identify targets for therapeutic intervention. The main focus for developing treatment has been to increase

This disease can affect the ability of children to learn [4], may delay their physical growth and

Amyotrophic Lateral Sclerosis comes from the greek language. ‘A’ means no, ‘myo’ means muscle, and ‘trophic’ means nourishment, all together it means no muscle nourishment. Lateral is talking about around the spinal cord, where it gets scarred and hardens, sclerosis. There are two types of ALS; sporadic and familial. Sporadic is the most common form in the US, 90%-95% of all cases. Familial ALS (FALS) is inherited from people’s parents. In these kinds of families, there is a 50% chance that the offspring will get these gene and may develop