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Severe neurodegenerative syndrome with lipodystrophy

Synonyms
ENCEPHALOPATHY, PROGRESSIVE, WITH LIPODYSTROPHY; Encephalopathy, progressive, with or without lipodystrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: BSCL2-Related Neurologic Disorders / Seipinopathy
The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth neuropathy type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), and pes cavus and other foot deformities. Disease severity is variable among and within families.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Daisuke Ito
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Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17, BSCL2
    Summary: BSCL2 lipid droplet biogenesis associated, seipin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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