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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, autosomal recessive 3

Neuronopathy, distal hereditary motor, autosomal recessive 3

Synonyms
Distal spinal muscular atrophy type 3; Distal spinal muscular atrophy, autosomal recessive 3; HMN III; HMN IV; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE III; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive distal hereditary motor neuronopathy-3 (HMNR3), also known as distal spinal muscular atrophy (DSMA) and distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006). [from OMIM]

Available tests

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Clinical tests (1 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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