NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID

General Information (adopted from Orphanet):

Synonyms, Signs: DHMN2D
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT
HMN IID
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
HMN2D
Number of Symptoms 27
OrphanetNr:
OMIM Id: 615575
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:0002380) Fasciculations 42 / 7739
2
(HPO:0002355) Difficulty walking 61 / 7739
3
(HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
4
(HPO:0001822) Hallux valgus 70 / 7739
5
(HPO:0001765) Hammertoe 63 / 7739
6
(HPO:0001838) Rocker bottom foot 85 / 7739
7
(HPO:0009005) Weakness of the intrinsic hand muscles 3 / 7739
8
(HPO:0001763) Pes planus 176 / 7739
9
(HPO:0007269) Spinal muscular atrophy 24 / 7739
10
(HPO:0003394) Muscle cramps 106 / 7739
11
(HPO:0007340) Lower limb muscle weakness 61 / 7739
12
(HPO:0009046) Difficulty running 17 / 7739
13
(OMIM) Denervation seen on EMG 1 / 7739
14
(HPO:0003677) Slow progression 134 / 7739
15
(OMIM) Lower limbs weakness and atrophy, distal 1 / 7739
16
(OMIM) Upper limb weakness 5 / 7739
17
(OMIM) Exertional leg pain 1 / 7739
18
(OMIM) Neurogenic atrophy see on muscle biopsy 4 / 7739
19
(OMIM) Lower limb weakness, proximal 1 / 7739
20
(OMIM) Inability to stand on toes 1 / 7739
21
(OMIM) Limb muscle weakness and atrophy, distal, neurogenic 1 / 7739
22
(OMIM) Angular atrophic fibers 1 / 7739
23
(OMIM) Triceps weakness 1 / 7739
24
(OMIM) Muscle weakness and atrophy, proximal 5 / 7739
25
(HPO:0003828) Variable expressivity 130 / 7739
26
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
(OMIM) Loss of ankle reflexes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf ...
Clinical Description OMIM Boylan et al. (1995) reported a large multigenerational family of English and German descent in which 9 living individuals and 1 deceased individual were diagnosed with distal spinal muscular atrophy. Affected individuals developed distal leg weakness, often associated ...
Molecular genetics OMIM In 2 unrelated families with autosomal dominant distal hereditary motor neuronopathy type IID, Sumner et al. (2013) identified a heterozygous missense mutation in the FBXO38 gene (C206R; 608533.0001). The mutation was found in the first family (Boylan et ...