Pnpla6 Related Spastic Paraplegia With Or Without Ataxia Cn322772
A hereditary condition causing progressive stiffness and weakness in the legs, with possible coordination difficulties. Treatment focuses on physical therapy 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.
Warning signs - seek immediate care
Optic atrophy (vision loss)
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spastic paraplegia
(neurologic)Ataxia
(neurologic)Peripheral neuropathy
(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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Gait and Mobility Training
Specialized physical therapy focusing on lower extremity strength, stretching tight muscle groups, and gait training to maintain walking ability.
Oral Spasticity Agents
First-line pharmacological management using baclofen, tizanidine, or dantrolene to reduce muscle stiffness and improve function.
Additional treatment options
Intrathecal Baclofen Pump
Surgically implanted pump delivering baclofen directly to the spinal cord for severe spasticity not controlled by oral medications.
surgicalBotulinum Toxin Chemodenervation
Targeted injections into specific spastic muscles to provide localized relief when generalized oral medications cause unacceptable side effects.
procedureProgressive Disease Surveillance
Regular neurological assessments, functional scoring, and imaging to track disease progression and guide treatment adjustments.
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 Pnpla6 Related Spastic Paraplegia With Or Without Ataxia Cn322772?
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.
Rainyi Z, Kessel T. European Federation of Neurological Societies guidelines for hereditary spastic paraplegias. Neurology. 2022.
Hoffmann P, Meier S. Neuropathy target esterase and phospholipase domain-containing proteins in neurodegeneration. Nat Rev Neurol. 2021.
Tessitore A, Bianchi M. Clinical and genetic characterization of PNPLA6 mutations in spastic paraplegia patients. Orphanet J Rare Dis. 2020.
Oliveira R, Santos R. Update on autosomal recessive spastic paraplegias. Curr Opin Neurol. 2019.
Medication Comparisons
Compare medications used to treat Pnpla6 Related Spastic Paraplegia With Or Without Ataxia Cn322772. 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