NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
DHMN2A
CHARCOT-MARIE-TOOTH DISEASE, SPINAL, IIA
HMN IIA
HMN2A
Number of Symptoms 7
OrphanetNr:
OMIM Id: 158590
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:0002522) Areflexia of lower limbs 16 / 7739
2
(HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
3
(OMIM) Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy 2 / 7739
4
(OMIM) No sensory deficit 2 / 7739
5
(OMIM) Paresis of extensor muscles of the big toe is presenting symptom 1 / 7739
6
(OMIM) EMG shows neurogenic abnormalities 8 / 7739
7
(OMIM) Progression to paralysis and atrophy of distal lower limb muscles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nelson and Amick (1966) reported a family in which 6 members had insidious onset and gradual progression of symmetrical distal atrophy and weakness of the extremities associated with hyporeflexia. Age at onset ranged from 20 to 40 years ...
Molecular genetics OMIM In affected members of 4 families with dHMN2, Irobi et al. (2004) identified heterozygous mutations in the same codon of the HSPB8 gene (608014.0001-608014.0002). One of the families had previously been reported by Timmerman et al. (1992). ...