Mitochondrial Membrane Protein-Associated Neurodegeneration (Q101874): Difference between revisions
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A Neurodegeneração Associada à Proteína da Membrana Mitocondrial (MPAN) é causada por mutações no gene C19orf12. Este gene está localizado no cromossomo 19 e acredita-se que desempenhe um papel no metabolismo de ácidos graxos. É uma das principais formas de NBIA e apresenta sintomas clínicos distintos que a diferenciam de outras formas de NBIA._x000D_ A Neurodegeneração Associada à Proteína da Membrana Mitocondrial (MPAN) é caracterizada inicialmente por alterações na marcha, seguidas de paresia espástica progressiva, distonia progressiva (que pode ser limitada a mãos e pés ou mais generalizada), anormalidades neuropsiquiátricas (labilidade emocional, depressão, ansiedade, impulsividade, compulsões, alucinações, perseveração, desatenção e hiperatividade) e declínio cognitivo. Outros achados precoces podem incluir disfagia, disartria, atrofia óptica, neuropatia axonal, parkinsonismo e incontinência intestinal/vesical. A sobrevida usualmente se estende à idade adulta. A doença terminal é caracterizada por demência grave, espasticidade, distonia e parkinsonismo. | |||
| description / en | description / en | ||
Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. This gene is found on chromosome 19 and is believed to play a role in fatty acid metabolism. It is one of the major forms of NBIA and has distinctive clinical symptoms that differentiate it from other forms of NBIA. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism. | |||
Revision as of 18:43, 16 August 2026
Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. This gene is found on chromosome 19 and is believed to play a role in fatty acid metabolism. It is one of the major forms of NBIA and has distinctive clinical symptoms that differentiate it from other forms of NBIA. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.
| Language | Label | Description | Also known as |
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| default for all languages | ID_976004020 |
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| English | Mitochondrial Membrane Protein-Associated Neurodegeneration |
Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. This gene is found on chromosome 19 and is believed to play a role in fatty acid metabolism. It is one of the major forms of NBIA and has distinctive clinical symptoms that differentiate it from other forms of NBIA. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism. |
