Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. T...
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The documentation for arthrogryposis multiplex congenita 2, neurogenic type, is limited primarily because it affects a small number of individuals worldwide, making systematic clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition.
To manage arthrogryposis multiplex congenita 2, neurogenic type, it is recommended to consult with a neurologist who specializes in neuromuscular disorders. Genetic counseling can provide insights into the implications of the ERGIC1 gene variants. Although there are currently no identified patient organizations, you may find support and resources through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Participating in natural history studies, if available, could also contribute to understanding this condition better.
Actionable guidance for navigating care for arthrogryposis multiplex congenita 2, neurogenic type
To manage arthrogryposis multiplex congenita 2, neurogenic type, it is recommended to consult with a neurologist who specializes in neuromuscular disorders. Genetic counseling can provide insights into the implications of the ERGIC1 gene variants. Although there are currently no identified patient organizations, you may find support and resources through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Participating in natural history studies, if available, could also contribute to understanding this condition better.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.