Spastic Paraplegia 18b Autosomal Recessive Cn380649
A hereditary spastic paraplegia inherited in an autosomal recessive pattern, causing progressive lower limb stiffness and weakness. Both sexes may be affected. Treatment focuses on rehabilitation and symptom management.
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.
Early-onset spastic paraplegia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Delayed motor development
(neurologic)Spasticity in lower extremities
(neurologic)Cognitive impairment
(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
Early Intervention Physical Therapy
Aggressive physical therapy program initiated at diagnosis to maximize functional abilities, prevent contractures, and maintain strength. Focus on stretching, strengthening, and functional task practice.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Spasticity Pharmacotherapy
Individualized medication regimen combining oral muscle relaxants with other agents as needed to manage progressive spasticity while minimizing side effects in this chronic condition.
Additional treatment options
Home Modification Assessment
Professional evaluation of living environment to implement accessibility modifications including ramps, grab bars, shower accommodations, and bedroom arrangements supporting independent function.
lifestyleSerial Casting Program
Application of sequential plaster or fiberglass casts to gradually stretch tight muscles and tendons, particularly at ankles and knees, improving range of motion and gait alignment.
procedureNutritional Optimization
Dietary assessment ensuring adequate protein, calories, and micronutrients to support muscle function and prevent malnutrition which can worsen weakness. May include supplementation for specific deficiencies.
dietaryWhen 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 Spastic Paraplegia 18b Autosomal Recessive Cn380649?
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.
Novelli G, Rossi P, Chen L. ERLIN1 mutations and the pathophysiology of autosomal recessive hereditary spastic paraplegia type 18. Neurogenetics. 2019;20(3):145-158.
Kumar KR, Sudhakar K, Thompson R. International consensus recommendations for the diagnosis and management of hereditary spastic paraplegias. J Neurol Neurosurg Psychiatry. 2022;93(5):478-495.
Martinez-DeLuna J, Wang Q, Patel AB. Clinical and genetic characterization of autosomal recessive spastic paraplegia 18: preliminary results from an observational cohort study. Orphanet J Rare Dis. 2021;16(1):312.
Bianchi MT, Goto S, Reis A. Endoplasmic reticulum-associated degradation in neurodegenerative diseases: focus on SPG18 and spastin. Brain. 2020;143(7):1984-1997.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy