X-linked distal spinal muscular atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
DSMAX
SMAX3
X-linked dSMA
X-linked dHMN
X-linked distal hereditary motor neuropathy
Number of Symptoms 18
OrphanetNr: 139557
OMIM Id: 300489
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal hereditary motor neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000759) Abnormal peripheral nervous system morphology 4 / 7739
2
 (HPO:0002317) Unsteady gait 45 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0002936) Distal sensory impairment rare [HPO:skoehler] 96 / 7739
5
 (HPO:0001761) Pes cavus 225 / 7739
6
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
7
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
8
 (HPO:0003693) Distal amyotrophy 118 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (HPO:0003677) Slow progression 134 / 7739
11
 (OMIM) EMG shows neurogenic changes 5 / 7739
12
 (OMIM) Peripheral nerve biopsy is normal 1 / 7739
13
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
14
 (HPO:0003621) Juvenile onset 105 / 7739
15
 (OMIM) Muscle biopsy showed neurogenic changes 2 / 7739
16
 (OMIM) Pes varus 3 / 7739
17
 (OMIM) Lower limbs affected before upper limbs 1 / 7739
18
 (OMIM) Distal sensory impairment, mild (in some patients) 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Takata et al. (2004) reported a white Brazilian family in which 17 males were affected with a distal form of spinal muscular atrophy affecting both the upper and lower limbs. The disorder was transmitted in an X-linked recessive ...
Molecular genetics OMIM In affected members of 2 families previously reported by Takata et al. (2004) and Kennerson et al. (2009), Kennerson et al. (2010) identified 2 different mutations in the ATP7A gene: T994I (300011.0015) and P1386S (300011.0016), respectively. In vitro ...