The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1
Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition and multidisciplinary management. SMA affects...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
ziauddin University
2025-04-01
|
| Series: | Pakistan Journal of Medicine and Dentistry |
| Subjects: | |
| Online Access: | https://ojs.zu.edu.pk/pjmd/article/view/3040 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849738368318963712 |
|---|---|
| author | Almas Siddique Shanzay Siddique Erum Akhter |
| author_facet | Almas Siddique Shanzay Siddique Erum Akhter |
| author_sort | Almas Siddique |
| collection | DOAJ |
| description |
Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition and multidisciplinary management. SMA affects the anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy. It is classified into four types based on the age of onset and clinical severity. Type 1 SMA, also known as Werdnig-Hoffmann disease, is the most severe form and generally manifests within the first six months of life. A boy was suspected of having SMA type 1 due to his hypotonic posture and 2.8 kg birth weight. Symptomatic treatment and diagnostic tests like MRI were done, but the infant died after a few days of readmission on day 28 due to severe breathing issues and muscular atrophy. The diagnosis was confirmed after his death.
|
| format | Article |
| id | doaj-art-ada7b078b2c145d096ef9bedddaaa521 |
| institution | DOAJ |
| issn | 2313-7371 2308-2593 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | ziauddin University |
| record_format | Article |
| series | Pakistan Journal of Medicine and Dentistry |
| spelling | doaj-art-ada7b078b2c145d096ef9bedddaaa5212025-08-20T03:06:36Zengziauddin UniversityPakistan Journal of Medicine and Dentistry2313-73712308-25932025-04-0114210.36283/ziun-pjmd14-2/071The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1Almas Siddique0https://orcid.org/0009-0001-1053-9187Shanzay Siddique1https://orcid.org/0009-0002-9609-0356Erum Akhter2University of Karachi, Karachi,Pakistan.Shaheed Mohtarma Benazir Bhutto Medical College Lyari, Karachi, PakistanUniversity of Karachi, Karachi, Pakistan. Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition and multidisciplinary management. SMA affects the anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy. It is classified into four types based on the age of onset and clinical severity. Type 1 SMA, also known as Werdnig-Hoffmann disease, is the most severe form and generally manifests within the first six months of life. A boy was suspected of having SMA type 1 due to his hypotonic posture and 2.8 kg birth weight. Symptomatic treatment and diagnostic tests like MRI were done, but the infant died after a few days of readmission on day 28 due to severe breathing issues and muscular atrophy. The diagnosis was confirmed after his death. https://ojs.zu.edu.pk/pjmd/article/view/3040Spinal Muscular Atrophy (SMA), Werdnig-Hoffmann Disease, Motor Neuron Disease, Muscle Weakness, Hypotonia, Respiratory Insufficiency, Electromyography (EMG), Infantile Spinal Muscular Atrophy, Creatine Kinase (CK-MB). |
| spellingShingle | Almas Siddique Shanzay Siddique Erum Akhter The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1 Pakistan Journal of Medicine and Dentistry Spinal Muscular Atrophy (SMA), Werdnig-Hoffmann Disease, Motor Neuron Disease, Muscle Weakness, Hypotonia, Respiratory Insufficiency, Electromyography (EMG), Infantile Spinal Muscular Atrophy, Creatine Kinase (CK-MB). |
| title | The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1 |
| title_full | The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1 |
| title_fullStr | The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1 |
| title_full_unstemmed | The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1 |
| title_short | The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1 |
| title_sort | life saving impact of early diagnosis and treatment for spinal muscular atrophy type 1 |
| topic | Spinal Muscular Atrophy (SMA), Werdnig-Hoffmann Disease, Motor Neuron Disease, Muscle Weakness, Hypotonia, Respiratory Insufficiency, Electromyography (EMG), Infantile Spinal Muscular Atrophy, Creatine Kinase (CK-MB). |
| url | https://ojs.zu.edu.pk/pjmd/article/view/3040 |
| work_keys_str_mv | AT almassiddique thelifesavingimpactofearlydiagnosisandtreatmentforspinalmuscularatrophytype1 AT shanzaysiddique thelifesavingimpactofearlydiagnosisandtreatmentforspinalmuscularatrophytype1 AT erumakhter thelifesavingimpactofearlydiagnosisandtreatmentforspinalmuscularatrophytype1 AT almassiddique lifesavingimpactofearlydiagnosisandtreatmentforspinalmuscularatrophytype1 AT shanzaysiddique lifesavingimpactofearlydiagnosisandtreatmentforspinalmuscularatrophytype1 AT erumakhter lifesavingimpactofearlydiagnosisandtreatmentforspinalmuscularatrophytype1 |