Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.
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.
Age of onset indicates when symptoms typically first appear.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Documentation is limited for cerebral palsy, spastic quadriplegic, type 2, primarily due to its rarity and the recent identification of its genetic basis. As this condition affects a relatively small population, systematic clinical studies have been sparse, making it challenging to gather comprehensive data on its clinical features and management.
To navigate the complexities of cerebral palsy, spastic quadriplegic, type 2, consider seeking a neurologist with expertise in genetic neurological disorders. Genetic counseling may also be beneficial for understanding the implications of the KANK1 mutation for you and your family. While there are no identified patient organizations specifically for CPSQ2, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, you may want to explore opportunities for participation in natural history studies as research develops.
Actionable guidance for navigating care for cerebral palsy, spastic quadriplegic, 2
To navigate the complexities of cerebral palsy, spastic quadriplegic, type 2, consider seeking a neurologist with expertise in genetic neurological disorders. Genetic counseling may also be beneficial for understanding the implications of the KANK1 mutation for you and your family. While there are no identified patient organizations specifically for CPSQ2, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, you may want to explore opportunities for participation in natural history studies as research develops.
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.
Age of onset indicates when symptoms typically first appear.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. 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.