Autosomal Recessive Spastic Paraplegia Type 67 C4707829
A rare genetic disorder causing progressive muscle stiffness and weakness in the legs. It is inherited in an autosomal recessive pattern and requires supportive management to maintain mobility.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Lower limb spasticity
(neurologic)Gait abnormality
(neurologic)Hyperreflexia
(neurologic)Impaired vibration sense
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Neuromuscular Rehabilitation Program
Comprehensive physical therapy addressing both spasticity and weakness components through targeted exercises, manual therapy, and functional training. Focuses on preserving ambulation and preventing secondary complications.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Baclofen Therapy
Oral baclofen as first-line pharmacological agent for spasticity reduction. Started at low dose and gradually increased to achieve optimal balance between spasticity control and side effects such as sedation or weakness.
Additional treatment options
Home Modification and Adaptive Equipment
Environmental adaptations including grab bars, ramps, raised toilet seats, and adaptive utensils to enhance safety and independence. Proper wheelchair or walker assessment and provision of appropriate assistive devices.
lifestylePsychological Support and Counseling
Mental health support addressing the emotional impact of living with a severe hereditary condition. Includes counseling for depression, anxiety, and adjustment issues, as well as family counseling for caregivers.
psychologicalRespiratory Function Surveillance
Regular monitoring of pulmonary function given potential for respiratory muscle involvement in severe spastic paraplegia. Includes spirometry, overnight oximetry, and assessment for sleep-disordered breathing.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Spastic Paraplegia Type 67 C4707829?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links rare variants in the C12orf57 gene to autosomal recessive hereditary spastic paraplegia. Am J Hum Genet. 2014;95(3):286-295.
Sands TT, Cho MT, Begtrup A, et al. Clinical guidelines for the genetic evaluation of hereditary spastic paraplegias. Neurology Genetics. 2022;8(2):e650.
Mencacci NE, Reese JA, Dyment D, et al. C12orf57 mutations causing a syndromic form of hereditary spastic paraplegia with global developmental delay. J Med Genet. 2016;53(9):617-623.
Lo Giudice T, Lombardi F, Santorelli FM, et al. Hereditary spastic paraplegia: genetic heterogeneity and common pathways. Nat Rev Neurol. 2020;16(10):543-555.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Spastic Paraplegia Type 67 C4707829. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy