A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder
This project is submitted in partial fulfillment of the requirements for the degree of Bachelor of Pharmacy, 2023.
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| Jezik: | English |
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Brac University
2024
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| Online pristup: | http://hdl.handle.net/10361/23102 |
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10361-231022024-06-04T21:00:47Z A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder Tabassum, Nafiza Momtaz, Tanisha School of Pharmacy, Brac University Spinal muscular atrophy SMN1 SMN2 Genetic testing Nusinersen SMN protein Neurosciences. This project is submitted in partial fulfillment of the requirements for the degree of Bachelor of Pharmacy, 2023. Cataloged from PDF version of thesis. Includes bibliographical references (pages 40-47). Spinal muscular atrophy (SMA) is the degradation of anterior horn cell which prevent the motor signal to travel throughout skeletal muscle, hence resulting in degradation of spinal motor neuron leading to muscle weakness and atrophy. This genetic disorder is caused by the production of SMN2 gene when SMN1 gene is mutated, which is less effective to produced SMN protein essential for motor neuron functioning. Symptoms depend on the severity and types of disease. In infants they can manifest as progressive muscle weakness, difficulties in respiratory system, breathing, swallowing and motor impairment. Genetic testing is done through blood and saliva for diagnosis purpose. Creatinine kinase, nerve conduction studies, EMG, muscle biopsy are the additional tests. The most recent medicine to be licensed for use in the treatment is Nusinersen of Spinraza, administering through lumber puncture. This antisense oligonucleotide medication targets the backup gene SMN2 to produce and synthesize full-length SMN protein. Nafiza Tabassum B. Pharmacy 2024-06-04T03:35:18Z 2024-06-04T03:35:18Z 2023 2023-09 Project report ID 19146029 http://hdl.handle.net/10361/23102 en This project is submitted in partial fulfillment of the requirements for the degree of Bachelor of Pharmacy, 2023. 47 pages application/pdf Brac University |
| institution |
Brac University |
| collection |
Institutional Repository |
| language |
English |
| topic |
Spinal muscular atrophy SMN1 SMN2 Genetic testing Nusinersen SMN protein Neurosciences. |
| spellingShingle |
Spinal muscular atrophy SMN1 SMN2 Genetic testing Nusinersen SMN protein Neurosciences. Tabassum, Nafiza A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| description |
This project is submitted in partial fulfillment of the requirements for the degree of Bachelor of Pharmacy, 2023. |
| author2 |
Momtaz, Tanisha |
| author_facet |
Momtaz, Tanisha Tabassum, Nafiza |
| format |
Project report |
| author |
Tabassum, Nafiza |
| author_sort |
Tabassum, Nafiza |
| title |
A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| title_short |
A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| title_full |
A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| title_fullStr |
A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| title_full_unstemmed |
A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| title_sort |
review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder |
| publisher |
Brac University |
| publishDate |
2024 |
| url |
http://hdl.handle.net/10361/23102 |
| work_keys_str_mv |
AT tabassumnafiza areviewonspinalmuscularatrophyafetalautosomalneurotransmitterrecessivedisorder AT tabassumnafiza reviewonspinalmuscularatrophyafetalautosomalneurotransmitterrecessivedisorder |
| _version_ |
1814307156112965632 |