Young adult-onset distal hereditary motor neuropathy

General Information (adopted from Orphanet):

Synonyms, Signs: Autosomal recessive distal spinal muscular atrophy type 5
Young adult-onset dHMN
dsma5
Number of Symptoms 17
OrphanetNr: 314485
OMIM Id: 614881
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive distal hereditary motor neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001288) Gait disturbance 318 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
4
 (HPO:0001763) Pes planus 176 / 7739
5
 (HPO:0001822) Hallux valgus 70 / 7739
6
 (HPO:0001765) Hammertoe 63 / 7739
7
 (HPO:0001838) Rocker bottom foot 85 / 7739
8
 (HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
9
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
10
 (OMIM) Dysphonia, mild (1 patient) 1 / 7739
11
 (OMIM) Distal muscle weakness, lower limbs more severely affected than upper limbs 1 / 7739
12
 (OMIM) Decreased amplitudes of motor nerves in the lower limbs seen on nerve conduction studies 1 / 7739
13
 (OMIM) Proximal muscle weakness, lower limbs, mild 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Areflexia of the upper and lower limbs 1 / 7739
16
 (OMIM) Distal muscle atrophy, lower limbs more severely affected than upper limbs 1 / 7739
17
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition ...
Clinical Description OMIM Blumen et al. (2012) reported 3 adult sibs, born of Moroccan Jewish Israeli parents, with distal muscle weakness. The parents' consanguinity was probable, but not certain. The proband presented at age 18 years with difficulty walking due to ...
Molecular genetics OMIM In 3 sibs with DSMA5, Blumen et al. (2012) identified a homozygous splice site mutation in the DNAJB2 gene (604139.0001). The mutation was found by homozygosity mapping followed by candidate gene analysis. Mutations in the DNAJB2 gene were ...