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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, type 5A

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.

Available tests

89 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1, SMAJI, GARS1
    Summary: glycyl-tRNA synthetase 1

Clinical features

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