Beta-Propeller protein-associated neurodegeneration (Q101871): Difference between revisions
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Neurodegeneração Associada à Proteína Beta-hélice (BPAN) é a forma mais comum de Neurodegeneração com acúmulo cerebral de ferro (NBIA) e é causada por mutações no gene WDR45, localizado no cromossomo X._x000D_ A maioria dos indivíduos afetados identificados até o momento são casos simplex, o que significa que são a única pessoa na família a ter a doença. A maioria são mulheres, indicando que as mutações são novas, também conhecidas como "de novo", e sugerindo que as mutações podem ser letais na maioria dos homens antes do nascimento. Há casos raros de recorrência em um irmão. Nesses casos, a mutação foi herdada de um dos pais levemente afetado._x000D_ A Neurodegeneração associada a proteína hélice-beta (BPAN) é tipicamente caracterizada por convulsões de início precoce, atraso no desenvolvimento infantil, incapacidade intelectual, linguagem de expressão ausente ou limitada, disfunção motora (ataxia) e comportamentos anormais frequentemente semelhantes ao transtorno do espectro autista. Podem ser observados tipos de convulsões, incluindo generalizadas (ausência, tônica, atônica, tônico-clônica e mioclônica), focais com comprometimento da consciência e espasmos epilépticos, bem como síndromes epilépticas (síndrome de West e síndrome de Lennox-Gastaut). Com a idade, as convulsões tendem a se resolver ou se tornar menos proeminentes, enquanto declínio cognitivo e transtornos do movimento (parkinsonismo progressivo e distonia) surgem como achados característicos. | |||
| description / en | description / en | ||
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is the most common form of Neurodegeneration with brain iron accumulation (NBIA) and caused by mutations in the gene WDR45, located on the X chromosome. Most affected individuals identified so far have been simplex cases, meaning they are the only person in their family to have the disease. The majority are females, indicating the mutations are new, also known as de novo, and suggesting that mutations may be lethal in most males before birth. There are rare instances of recurrence in a sibling. In these cases, the mutation was inherited from a mildly affected parent. Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent to limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings. | |||
Revision as of 18:43, 16 August 2026
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is the most common form of Neurodegeneration with brain iron accumulation (NBIA) and caused by mutations in the gene WDR45, located on the X chromosome. Most affected individuals identified so far have been simplex cases, meaning they are the only person in their family to have the disease. The majority are females, indicating the mutations are new, also known as de novo, and suggesting that mutations may be lethal in most males before birth. There are rare instances of recurrence in a sibling. In these cases, the mutation was inherited from a mildly affected parent. Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent to limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1841340749 |
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| English | Beta-Propeller protein-associated neurodegeneration |
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is the most common form of Neurodegeneration with brain iron accumulation (NBIA) and caused by mutations in the gene WDR45, located on the X chromosome. Most affected individuals identified so far have been simplex cases, meaning they are the only person in their family to have the disease. The majority are females, indicating the mutations are new, also known as de novo, and suggesting that mutations may be lethal in most males before birth. There are rare instances of recurrence in a sibling. In these cases, the mutation was inherited from a mildly affected parent. Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent to limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings. |
