Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for autosomal recessive spastic paraplegia type 71 is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This makes it challenging to conduct large-scale clinical studies or gather extensive patient data. The genetic basis of the condition has not yet been established, which further complicates understanding its full clinical spectrum and management options.
The clinical features of autosomal recessive spastic paraplegia type 71 include: 1) Lower limb spasticity (30-79%); 2) Progressive spastic paraplegia (30-79%); 3) Global developmental delay (30-79%); 4) Mild intellectual disability (30-79%); 5) Hyperreflexia (30-79%); 6) Spastic gait (30-79%); 7) Peripheral neuropathy (30-79%); 8) Hand tremor (30-79%); 9) Babinski sign (30-79%); 10) Hypoplasia of the corpus callosum (30-79%). These features highlight the neurological and developmental challenges faced by individuals with SPG71.
To navigate your condition, consider seeking a neurologist with expertise in hereditary spastic paraplegias or related disorders. While there are currently no patient organizations specifically for SPG71, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, genetic counseling may be beneficial, especially if new genetic insights emerge in the future. Keeping an eye on emerging research and potential clinical trials is also advisable as the field evolves.
Actionable guidance for navigating care for autosomal recessive spastic paraplegia type 71
To navigate your condition, consider seeking a neurologist with expertise in hereditary spastic paraplegias or related disorders. While there are currently no patient organizations specifically for SPG71, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, genetic counseling may be beneficial, especially if new genetic insights emerge in the future. Keeping an eye on emerging research and potential clinical trials is also advisable as the field evolves.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal recessive spastic paraplegia type 71 is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This makes it challenging to conduct large-scale clinical studies or gather extensive patient data. The genetic basis of the condition has not yet been established, which further complicates understanding its full clinical spectrum and management options.
The clinical features of autosomal recessive spastic paraplegia type 71 include: 1) Lower limb spasticity (30-79%); 2) Progressive spastic paraplegia (30-79%); 3) Global developmental delay (30-79%); 4) Mild intellectual disability (30-79%); 5) Hyperreflexia (30-79%); 6) Spastic gait (30-79%); 7) Peripheral neuropathy (30-79%); 8) Hand tremor (30-79%); 9) Babinski sign (30-79%); 10) Hypoplasia of the corpus callosum (30-79%). These features highlight the neurological and developmental challenges faced by individuals with SPG71.
To navigate your condition, consider seeking a neurologist with expertise in hereditary spastic paraplegias or related disorders. While there are currently no patient organizations specifically for SPG71, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, genetic counseling may be beneficial, especially if new genetic insights emerge in the future. Keeping an eye on emerging research and potential clinical trials is also advisable as the field evolves.
Actionable guidance for navigating care for autosomal recessive spastic paraplegia type 71
To navigate your condition, consider seeking a neurologist with expertise in hereditary spastic paraplegias or related disorders. While there are currently no patient organizations specifically for SPG71, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, genetic counseling may be beneficial, especially if new genetic insights emerge in the future. Keeping an eye on emerging research and potential clinical trials is also advisable as the field evolves.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal recessive spastic paraplegia type 71 is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This makes it challenging to conduct large-scale clinical studies or gather extensive patient data. The genetic basis of the condition has not yet been established, which further complicates understanding its full clinical spectrum and management options.
The clinical features of autosomal recessive spastic paraplegia type 71 include: 1) Lower limb spasticity (30-79%); 2) Progressive spastic paraplegia (30-79%); 3) Global developmental delay (30-79%); 4) Mild intellectual disability (30-79%); 5) Hyperreflexia (30-79%); 6) Spastic gait (30-79%); 7) Peripheral neuropathy (30-79%); 8) Hand tremor (30-79%); 9) Babinski sign (30-79%); 10) Hypoplasia of the corpus callosum (30-79%). These features highlight the neurological and developmental challenges faced by individuals with SPG71.
To navigate your condition, consider seeking a neurologist with expertise in hereditary spastic paraplegias or related disorders. While there are currently no patient organizations specifically for SPG71, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, genetic counseling may be beneficial, especially if new genetic insights emerge in the future. Keeping an eye on emerging research and potential clinical trials is also advisable as the field evolves.
Actionable guidance for navigating care for autosomal recessive spastic paraplegia type 71
To navigate your condition, consider seeking a neurologist with expertise in hereditary spastic paraplegias or related disorders. While there are currently no patient organizations specifically for SPG71, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, genetic counseling may be beneficial, especially if new genetic insights emerge in the future. Keeping an eye on emerging research and potential clinical trials is also advisable as the field evolves.
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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