Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis
The Parkinson’s disease-amyotrophic lateral sclerosis (ALS) complex typically manifests as levodopa-responsive parkinsonism, followed by ALS. It is extremely rare for Parkinson’s disease and ALS to coexist without other neurological disorders. Named after the scientists who first described this over...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-09-01
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| Series: | Case Reports in Neurology |
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| Online Access: | https://beta.karger.com/Article/FullText/532092 |
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| author | Ayesha Aslam Eisham Sarmad Ahmad Nawaz Ahsan Numan Azba Ahmad Muhammad Hassan |
| author_facet | Ayesha Aslam Eisham Sarmad Ahmad Nawaz Ahsan Numan Azba Ahmad Muhammad Hassan |
| author_sort | Ayesha Aslam |
| collection | DOAJ |
| description | The Parkinson’s disease-amyotrophic lateral sclerosis (ALS) complex typically manifests as levodopa-responsive parkinsonism, followed by ALS. It is extremely rare for Parkinson’s disease and ALS to coexist without other neurological disorders. Named after the scientists who first described this overlap of two neurodegenerative conditions, it is referred to as Brait-Fahn-Schwartz disease. Given its variable presentation, increasing rarity, and lack of any diagnostic test, it poses a diagnostic challenge for physicians. We present a case of a 55-year-old Pakistani male experiencing progressive quadriparesis with spastic lower limbs and flaccid upper limbs, in addition to the cardinal features of idiopathic Parkinson’s disease. Since there is currently no cure available for either Parkinson’s disease or ALS, all available treatment focuses on improving quality of life, which we achieved in our patient. This case is unique in being the first incidence of Parkinson’s disease-ALS complex in a novel geographic region such as Pakistan, where genetic testing and cost constraints limit the diagnosis of rare disorders. The coexistence of extrapyramidal symptoms and pyramidal symptoms is uncommon. In such situations, physicians may overlook one group of symptoms, potentially leading to a misdiagnosis. This case highlights the value of a thorough physical examination and electrodiagnostic studies and suggests the association between Parkinson’s disease and ALS. This case demonstrates the significance of understanding when Parkinson’s disease symptoms start to appear in patients with ALS and the need to start dopaminergic therapy in those who had Parkinson’s disease features before ALS to alleviate the suffering of an individual and enhance quality of life. |
| first_indexed | 2024-03-11T17:24:38Z |
| format | Article |
| id | doaj.art-3f261712e28d490489005713d659b35f |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-03-11T17:24:38Z |
| publishDate | 2023-09-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-3f261712e28d490489005713d659b35f2023-10-19T06:45:47ZengKarger PublishersCase Reports in Neurology1662-680X2023-09-0115120721410.1159/000532092532092Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral SclerosisAyesha Aslam0Eisham Sarmad1Ahmad Nawaz2Ahsan Numan3Azba Ahmad4Muhammad Hassan5Department of Neurology, Mayo Hospital, King Edward Medical University, Lahore, PakistanDepartment of Neurology, Mayo Hospital, King Edward Medical University, Lahore, PakistanDepartment of Neurology, Mayo Hospital, King Edward Medical University, Lahore, PakistanDepartment of Neurology, Mayo Hospital, King Edward Medical University, Lahore, PakistanDepartment of Neurology, Mayo Hospital, King Edward Medical University, Lahore, PakistanDepartment of Neurology, Mayo Hospital, King Edward Medical University, Lahore, PakistanThe Parkinson’s disease-amyotrophic lateral sclerosis (ALS) complex typically manifests as levodopa-responsive parkinsonism, followed by ALS. It is extremely rare for Parkinson’s disease and ALS to coexist without other neurological disorders. Named after the scientists who first described this overlap of two neurodegenerative conditions, it is referred to as Brait-Fahn-Schwartz disease. Given its variable presentation, increasing rarity, and lack of any diagnostic test, it poses a diagnostic challenge for physicians. We present a case of a 55-year-old Pakistani male experiencing progressive quadriparesis with spastic lower limbs and flaccid upper limbs, in addition to the cardinal features of idiopathic Parkinson’s disease. Since there is currently no cure available for either Parkinson’s disease or ALS, all available treatment focuses on improving quality of life, which we achieved in our patient. This case is unique in being the first incidence of Parkinson’s disease-ALS complex in a novel geographic region such as Pakistan, where genetic testing and cost constraints limit the diagnosis of rare disorders. The coexistence of extrapyramidal symptoms and pyramidal symptoms is uncommon. In such situations, physicians may overlook one group of symptoms, potentially leading to a misdiagnosis. This case highlights the value of a thorough physical examination and electrodiagnostic studies and suggests the association between Parkinson’s disease and ALS. This case demonstrates the significance of understanding when Parkinson’s disease symptoms start to appear in patients with ALS and the need to start dopaminergic therapy in those who had Parkinson’s disease features before ALS to alleviate the suffering of an individual and enhance quality of life.https://beta.karger.com/Article/FullText/532092case reportparkinson’s diseaseamyotrophic lateral sclerosispd-als complex |
| spellingShingle | Ayesha Aslam Eisham Sarmad Ahmad Nawaz Ahsan Numan Azba Ahmad Muhammad Hassan Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis Case Reports in Neurology case report parkinson’s disease amyotrophic lateral sclerosis pd-als complex |
| title | Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis |
| title_full | Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis |
| title_fullStr | Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis |
| title_full_unstemmed | Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis |
| title_short | Brait-Fahn-Schwartz Disease: A Unique Co-Occurrence of Parkinson’s Disease and Amyotrophic Lateral Sclerosis |
| title_sort | brait fahn schwartz disease a unique co occurrence of parkinson s disease and amyotrophic lateral sclerosis |
| topic | case report parkinson’s disease amyotrophic lateral sclerosis pd-als complex |
| url | https://beta.karger.com/Article/FullText/532092 |
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