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
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001604) | Vocal cord paresis | 8 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0002355) | Difficulty walking | 61 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(OMIM) | Distal limb muscle atrophy due to peripheral neuropathy | 48 / 7739 | ||||
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(OMIM) | Difficulty with hand grip | 1 / 7739 | ||||
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(OMIM) | Normal motor nerve conduction velocities | 6 / 7739 | ||||
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(OMIM) | Intact sensation | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |