Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
Abstract Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first manifest in adulthood. Although spinal m...
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-022-03633-y |
| _version_ | 1797983958651109376 |
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| author | Cempaka Thursina Srie Setyaningrum Indra Sari Kusuma Harahap Dian Kesumapramudya Nurputra Mawaddah Ar Rochmah Ahmad Hamim Sadewa Giga Hasabi Alkarani Nur Imma Fatimah Harahap |
| author_facet | Cempaka Thursina Srie Setyaningrum Indra Sari Kusuma Harahap Dian Kesumapramudya Nurputra Mawaddah Ar Rochmah Ahmad Hamim Sadewa Giga Hasabi Alkarani Nur Imma Fatimah Harahap |
| author_sort | Cempaka Thursina Srie Setyaningrum |
| collection | DOAJ |
| description | Abstract Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first manifest in adulthood. Although spinal muscular atrophy has come to the era of newborn screening and promising treatments, genetically confirmed spinal muscular atrophy patients are still rare in third world countries, including Indonesia. Case presentations We presented three Indonesian patients with spinal muscular atrophy genetically confirmed during adulthood. The first case was a 40-year-old male who presented with weakness in his lower limbs that started when he was 9 years old. At the age of 16 years, he could no longer walk and started using a wheelchair. He first came to our clinic at the age of 38 years, and was diagnosed with spinal muscular atrophy 2 years later. The second patient was a 58-year-old male who presented with lower limb weakness since he was 12 years old. Owing to the geographical distance and financial problems, he was referred to our clinic at the age of 56 years, when he already used a walker to walk. Lastly, the third patient was a 28-year-old woman, who was in the first semester of her second pregnancy, and who presented with slowly progressing lower limb weakness. Her limb weakness began at the age of 8 years, and slowly progressed until she became dependent on her wheelchair 8 years later until now. She had successfully given birth to a healthy daughter 3 years before her first visit to our clinic. All three patients were diagnosed with neuromuscular disorder diseases, with the differential diagnoses of Duchenne muscular dystrophy, spinal muscular atrophy, and Becker muscular dystrophy. These patients were finally confirmed to have spinal muscular atrophy due to SMN1 deletion by polymerase chain reaction and restriction fragment length polymorphism. Conclusions Many genetic diseases are often neglected in developing countries owing to the difficulty in diagnosis and unavailable treatment. Our case series focused on the disease courses, diagnosis difficulties, and clinical presentations of three patients that finally lead to diagnoses of spinal muscular atrophy. |
| first_indexed | 2024-04-11T06:54:15Z |
| format | Article |
| id | doaj.art-1a10fccf6dad4a658e451a00023f23c2 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-11T06:54:15Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-1a10fccf6dad4a658e451a00023f23c22022-12-22T04:39:04ZengBMCJournal of Medical Case Reports1752-19472022-11-011611610.1186/s13256-022-03633-yClinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case seriesCempaka Thursina Srie Setyaningrum0Indra Sari Kusuma Harahap1Dian Kesumapramudya Nurputra2Mawaddah Ar Rochmah3Ahmad Hamim Sadewa4Giga Hasabi Alkarani5Nur Imma Fatimah Harahap6Department of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaDepartment of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaDepartment of Pediatrics, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaDepartment of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaDepartment of Biochemistry, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaDepartment of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaDepartment of Clinical Pathology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah MadaAbstract Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first manifest in adulthood. Although spinal muscular atrophy has come to the era of newborn screening and promising treatments, genetically confirmed spinal muscular atrophy patients are still rare in third world countries, including Indonesia. Case presentations We presented three Indonesian patients with spinal muscular atrophy genetically confirmed during adulthood. The first case was a 40-year-old male who presented with weakness in his lower limbs that started when he was 9 years old. At the age of 16 years, he could no longer walk and started using a wheelchair. He first came to our clinic at the age of 38 years, and was diagnosed with spinal muscular atrophy 2 years later. The second patient was a 58-year-old male who presented with lower limb weakness since he was 12 years old. Owing to the geographical distance and financial problems, he was referred to our clinic at the age of 56 years, when he already used a walker to walk. Lastly, the third patient was a 28-year-old woman, who was in the first semester of her second pregnancy, and who presented with slowly progressing lower limb weakness. Her limb weakness began at the age of 8 years, and slowly progressed until she became dependent on her wheelchair 8 years later until now. She had successfully given birth to a healthy daughter 3 years before her first visit to our clinic. All three patients were diagnosed with neuromuscular disorder diseases, with the differential diagnoses of Duchenne muscular dystrophy, spinal muscular atrophy, and Becker muscular dystrophy. These patients were finally confirmed to have spinal muscular atrophy due to SMN1 deletion by polymerase chain reaction and restriction fragment length polymorphism. Conclusions Many genetic diseases are often neglected in developing countries owing to the difficulty in diagnosis and unavailable treatment. Our case series focused on the disease courses, diagnosis difficulties, and clinical presentations of three patients that finally lead to diagnoses of spinal muscular atrophy.https://doi.org/10.1186/s13256-022-03633-ySpinal muscular atrophyClinical characterizationDiagnosisIndonesia |
| spellingShingle | Cempaka Thursina Srie Setyaningrum Indra Sari Kusuma Harahap Dian Kesumapramudya Nurputra Mawaddah Ar Rochmah Ahmad Hamim Sadewa Giga Hasabi Alkarani Nur Imma Fatimah Harahap Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series Journal of Medical Case Reports Spinal muscular atrophy Clinical characterization Diagnosis Indonesia |
| title | Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series |
| title_full | Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series |
| title_fullStr | Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series |
| title_full_unstemmed | Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series |
| title_short | Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series |
| title_sort | clinical characterizations of three adults with genetically confirmed spinal muscular atrophy a case series |
| topic | Spinal muscular atrophy Clinical characterization Diagnosis Indonesia |
| url | https://doi.org/10.1186/s13256-022-03633-y |
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