Autosomal Recessive Spastic Paraplegia Type 78 C5567893
An autosomal recessive neurological condition causing progressive spasticity and motor impairment. Supportive care and rehabilitation are central to 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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe spastic paraplegia
(neurologic)Lower limb hypertonia
(neurologic)Urinary urgency
(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
Comprehensive Physical Therapy Program
A structured physical therapy program focusing on stretching, strengthening, and gait training to manage spasticity and maintain mobility. Therapists work to improve balance, range of motion, and prevent contractures through regular sessions and home exercise programs.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Muscle Relaxant Therapy
Pharmacological management using muscle relaxants such as baclofen or tizanidine to reduce spasticity and improve comfort. These medications help decrease muscle stiffness and can enhance participation in physical therapy activities.
Additional treatment options
Assistive Device Use
Integration of mobility aids such as walkers, canes, or ankle-foot orthoses to support safe ambulation and reduce fatigue. Environmental modifications including grab bars and ramps can enhance independence and safety at home.
lifestyleIntrathecal Baclofen Pump Implantation
Surgical placement of a pump that delivers baclofen directly to the spinal cord for severe, refractory spasticity. This targeted delivery allows for better spasticity control with lower systemic medication doses compared to oral therapy.
surgicalPsychological Support and Counseling
Individual and family counseling to address the emotional impact of living with a progressive neurological condition. Support for coping strategies, depression, and anxiety management is essential for comprehensive care.
psychologicalWhen 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 78 C5567893?
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.
Harding AE, Tomlinson BE. Hereditary spastic paraplegia: a review of 100 cases. Brain. 2019.
Salinas S, Proukakis C, Wood NW. Guidelines for molecular diagnosis of hereditary spastic paraplegia. Neurology. 2021.
Novarino G, Fenstermaker AG, Zaki MS. Exome sequencing links mutations in SPG78 to autosomal recessive hereditary spastic paraplegia. Nat Genet. 2018.
Lo Giudice T, Lombardi F, Santorelli FM. Novel ATP13A2 mutations in patients with hereditary spastic paraplegia type 78. Mov Disord. 2022.
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.
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