Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement.
Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal recessive
11q13,14q32.2
Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607088.1.1 | Lebanon | Female | Yes | No | Progressive distal muscle weakness; Dis... Progressive distal muscle weakness; Distal upper limb amyotrophy; Distal lower limb amyotrophy; Hyperreflexia; Motor polyneuropathy; ;  | NM_003384.3:c.656G>T, NM_003384.3:c.761G>T | Heterozygous | Autosomal, Recessive | El-Bazzal et al. 2019 | |
| 607088.1.2 | Lebanon | Male | Yes | No | Progressive distal muscle weakness; Dis... Progressive distal muscle weakness; Distal upper limb amyotrophy; Distal lower limb amyotrophy; Hyperreflexia; Motor polyneuropathy; ; | NM_003384.3:c.656G>T, NM_003384.3:c.761G>T | Heterozygous | Autosomal, Recessive | El-Bazzal et al. 2019 | Sibling of 607088.1.... |
Viollet et al. (2002) reported a large inbred family afftected with chronic distal spinal muscular atrophy. Five children in this family were affected. Haplotype anaysis on 17 members of this family pointed to a causative locus to chromosome 11q13 between D11S1889 and D11S1321. Although this region included IGHMBP2, no mutations were found in this gene. this promted the authors to suggest that the condition in this family was distinct from SMARD1. Two polymorphisms in the IGHMBP2 gene were identified (subject 600502.1.1).