NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA

General Information (adopted from Orphanet):

Synonyms, Signs: SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS
DHMN7A
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA
DHMNVP
HMN VIIA
HARPER-YOUNG MYOPATHY
HMN7A
Number of Symptoms 10
OrphanetNr:
OMIM Id: 158580
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001604) Vocal cord paresis 8 / 7739
2
(HPO:0001337) Tremor 200 / 7739
3
(HPO:0002355) Difficulty walking 61 / 7739
4
(HPO:0001265) Hyporeflexia 208 / 7739
5
(HPO:0001761) Pes cavus 225 / 7739
6
(HPO:0002460) Distal muscle weakness 122 / 7739
7
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
8
(OMIM) Difficulty with hand grip 1 / 7739
9
(OMIM) Normal motor nerve conduction velocities 6 / 7739
10
(OMIM) Intact sensation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and ...
Clinical Description OMIM Young and Harper (1980) described a large kindred with autosomal dominant inheritance of a peculiar form of spinal muscular atrophy and vocal cord paralysis. The disorder presented in the teens with small muscle wasting in the hands, particularly ...
Molecular genetics OMIM In affected members of a large multigenerational Welsh family with HMN7A reported by McEntagart et al. (2001), Barwick et al. (2012) identified a heterozygous truncating mutation in the SLC5A7 gene (608761.0001). The mutation, which was identified by exome ...