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GTR Home > Conditions/Phenotypes > Autosomal recessive distal spinal muscular atrophy 2

Autosomal recessive distal spinal muscular atrophy 2

Synonyms
Hereditary motor neuropathy, Jerash type; Motor neuropathy, distal, Jerash type; NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2; NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; Spinal muscular atrophy, Jerash type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive distal hereditary motor neuronopathy-2 (HMNR2) is a neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS16, DSMA2, HMNR2, OPRS1, SIG-1R, SR-BP, SR-BP1, SRBP, hSigmaR1, sigma1R, SIGMAR1
    Summary: sigma non-opioid intracellular receptor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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