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autosomal recessive distal spinal muscular atrophy 2

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).
Uniprot Description An autosomal recessive 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.
Disease Ontology Description A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.
Mondo Term and Equivalent IDs
MONDO:0011585:  autosomal recessive distal spinal muscular atrophy 2
GARD:0010133: 
MESH:C535715: 
Orphanet:139552: 
SCTID:763533003: