Hereditary motor and sensory neuropathy, Okinawa type

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
HMSNO
HMSNP
Hereditary motor and sensory neuropathy, proximal type
Number of Symptoms 32
OrphanetNr: 90117
OMIM Id: 604484
ICD-10: G60.0
UMLs: C1858338
MeSH: C535717
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant hereditary axonal motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Charcot-Marie-Tooth disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002445) Tetraplegia 26 / 7739
2
 (HPO:0001288) Gait disturbance 318 / 7739
3
 (HPO:0002936) Distal sensory impairment 96 / 7739
4
 (HPO:0002378) Hand tremor rare [HPO:skoehler] 9 / 7739
5
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
6
 (HPO:0002380) Fasciculations 42 / 7739
7
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
8
 (HPO:0009830) Peripheral neuropathy 206 / 7739
9
 (HPO:0003077) Hyperlipidemia 37 / 7739
10
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
11
 (HPO:0003701) Proximal muscle weakness 105 / 7739
12
 (HPO:0007126) Proximal amyotrophy 29 / 7739
13
 (OMIM) Tetraplegia in advanced disease 1 / 7739
14
 (OMIM) Mild loss of touch and temperature 1 / 7739
15
 (OMIM) TFG- and TDP43-positive intraneuronal inclusions in some sensory and motor spinal cord neurons 1 / 7739
16
 (OMIM) Axonal motor and sensory neuropathy 2 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Loss of dorsal root ganglion cells 1 / 7739
19
 (OMIM) Axonal degeneration seen on nerve conduction studies 1 / 7739
20
 (OMIM) Painful muscle cramps 2 / 7739
21
 (HPO:0002171) Gliosis 48 / 7739
22
 (OMIM) Loss of peripheral nerve axons 1 / 7739
23
 (OMIM) Muscle weakness and atrophy, proximal 5 / 7739
24
 (OMIM) More severe loss of position and vibration 1 / 7739
25
 (OMIM) Loss of anterior horn cells 2 / 7739
26
 (OMIM) Neurogenic changes seen on EMG and biopsy 1 / 7739
27
 (OMIM) Hypo- or areflexia 4 / 7739
28
 (OMIM) Fatty replacement in hip muscles and proximal muscles of the lower limb seen on MRI 1 / 7739
29
 (OMIM) Bulbar symptoms may occur (less common) 1 / 7739
30
 (OMIM) Loss of myelinated fibers in spinal cord roots 1 / 7739
31
 (HPO:0003677) Slow progression 134 / 7739
32
 (HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HMSNP is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic ...
Clinical Description OMIM Takashima et al. (1997) reported an autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement (HMSNP). There were 23 patients from 8 families, all from Okinawa, Japan. The characteristics of the disorder included adult-onset ...
Molecular genetics OMIM In affected members of 4 Japanese families with proximal hereditary motor and sensory neuropathy, Ishiura et al. (2012) identified a heterozygous mutation in the TFG gene (P285L; 602498.0001). Two of the families were from the Kansai region (Maeda ...