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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 64

Hereditary spastic paraplegia 64

Synonyms
Spastic paraplegia 64, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: ENTPD1-Related Neurodevelopmental Disorder
ENTPD1-related neurodevelopmental disorder (ENTPD1-NDD) is characterized by developmental delay / intellectual disability (ranging from borderline/mild to moderate/severe) and onset of progressive spastic paraplegia with progressive gait impairment beginning before age five years. Difficulty with balance and frequent falling are common and can result in loss of independent ambulation and wheelchair dependence in the teenage to young adult years. Other neuromuscular findings can include abnormal deep tendon reflexes, weakness, neuropathy, epilepsy, dysarthria, and dysphagia. Behavior abnormalities and neurocognitive regression are common. Life span does not appear to be shortened.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Daniel Calame
Isabella Herman
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Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATP-DPH, ATPDase, CD39, NTPDase-1, SPG64, ENTPD1
    Summary: ectonucleoside triphosphate diphosphohydrolase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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