Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive ...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation on autosomal recessive spastic paraplegia type 67 is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This low incidence restricts the number of systematic clinical studies, making it challenging to gather comprehensive information about the condition. Additionally, the lack of identified genetic factors further complicates understanding and characterization.
Key clinical features of SPG67 include mild intellectual disability, global developmental delay, and lower limb spasticity, with a frequency of 30-79% among affected individuals. Other notable symptoms are hyperreflexia, spastic gait, and gait disturbances. Cerebral cortical atrophy and generalized amyotrophy are also observed in some cases. These symptoms can significantly impact mobility and overall quality of life.
To navigate your journey with SPG67, it is recommended to seek a neurologist with expertise in hereditary spastic paraplegias. While there are currently no patient organizations or registries specifically for SPG67, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information and support. Consider reaching out to genetic counseling services for guidance on potential genetic factors, even though none have been identified yet.
Actionable guidance for navigating care for autosomal recessive spastic paraplegia type 67
To navigate your journey with SPG67, it is recommended to seek a neurologist with expertise in hereditary spastic paraplegias. While there are currently no patient organizations or registries specifically for SPG67, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information and support. Consider reaching out to genetic counseling services for guidance on potential genetic factors, even though none have been identified yet.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation on autosomal recessive spastic paraplegia type 67 is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This low incidence restricts the number of systematic clinical studies, making it challenging to gather comprehensive information about the condition. Additionally, the lack of identified genetic factors further complicates understanding and characterization.
Key clinical features of SPG67 include mild intellectual disability, global developmental delay, and lower limb spasticity, with a frequency of 30-79% among affected individuals. Other notable symptoms are hyperreflexia, spastic gait, and gait disturbances. Cerebral cortical atrophy and generalized amyotrophy are also observed in some cases. These symptoms can significantly impact mobility and overall quality of life.
To navigate your journey with SPG67, it is recommended to seek a neurologist with expertise in hereditary spastic paraplegias. While there are currently no patient organizations or registries specifically for SPG67, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information and support. Consider reaching out to genetic counseling services for guidance on potential genetic factors, even though none have been identified yet.
Actionable guidance for navigating care for autosomal recessive spastic paraplegia type 67
To navigate your journey with SPG67, it is recommended to seek a neurologist with expertise in hereditary spastic paraplegias. While there are currently no patient organizations or registries specifically for SPG67, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information and support. Consider reaching out to genetic counseling services for guidance on potential genetic factors, even though none have been identified yet.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation on autosomal recessive spastic paraplegia type 67 is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This low incidence restricts the number of systematic clinical studies, making it challenging to gather comprehensive information about the condition. Additionally, the lack of identified genetic factors further complicates understanding and characterization.
Key clinical features of SPG67 include mild intellectual disability, global developmental delay, and lower limb spasticity, with a frequency of 30-79% among affected individuals. Other notable symptoms are hyperreflexia, spastic gait, and gait disturbances. Cerebral cortical atrophy and generalized amyotrophy are also observed in some cases. These symptoms can significantly impact mobility and overall quality of life.
To navigate your journey with SPG67, it is recommended to seek a neurologist with expertise in hereditary spastic paraplegias. While there are currently no patient organizations or registries specifically for SPG67, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information and support. Consider reaching out to genetic counseling services for guidance on potential genetic factors, even though none have been identified yet.
Actionable guidance for navigating care for autosomal recessive spastic paraplegia type 67
To navigate your journey with SPG67, it is recommended to seek a neurologist with expertise in hereditary spastic paraplegias. While there are currently no patient organizations or registries specifically for SPG67, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information and support. Consider reaching out to genetic counseling services for guidance on potential genetic factors, even though none have been identified yet.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Consider asking your healthcare providers these condition-specific questions
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.
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