Autosomal recessive axonal neuropathy with neuromyotonia

General Information (adopted from Orphanet):

Synonyms, Signs: ARCMT2-NM
GAMSTORP-WOHLFART SYNDROME
ARAN-NM
MYOKYMIA, MYOTONIA, AND MUSCLE WASTING
NMAN
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
Number of Symptoms 24
OrphanetNr: 324442
OMIM Id: 137200
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002411) Myokymia 10 / 7739
2
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
3
 (HPO:0002380) Fasciculations 42 / 7739
4
 (HPO:0007002) Motor axonal neuropathy 17 / 7739
5
 (HPO:0001760) Abnormality of the foot 96 / 7739
6
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
7
 (HPO:0000975) Hyperhidrosis 64 / 7739
8
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
9
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
10
 (HPO:0002486) Myotonia 29 / 7739
11
 (HPO:0003394) Muscle cramps 106 / 7739
12
 (HPO:0003552) Muscle stiffness 23 / 7739
13
 (OMIM) Action myotonia 1 / 7739
14
 (OMIM) Impaired gait due to peripheral neuropathy 1 / 7739
15
 (OMIM) EMG shows high-frequency spontaneous discharges 1 / 7739
16
 (OMIM) Hyperexcitability of peripheral nerve fibers 1 / 7739
17
 (OMIM) Distal muscle weakness and atrophy, upper and lower limbs 1 / 7739
18
 (MedDRA:10072359) Neuromyotonia 1 / 7739
19
 (OMIM) Hang weakness 1 / 7739
20
 (OMIM) Distal sensory impairment, mild (in some patients) 4 / 7739
21
 (HPO:0003676) Progressive disorder 148 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Percussion contraction of the tongue (1 family) 1 / 7739
24
 (OMIM) EMG and muscle biopsy shows chronic denervation of the peripheral nerves 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 ...
Clinical Description OMIM Hahn et al. (1991) reported a Canadian brother and sister of Chinese origin with childhood-onset neuromyotonia and progressive motor neuropathy. The boy developed generalized muscle stiffening at age 10 years. He had difficulty in releasing his grip, his ...
Molecular genetics OMIM Zimon et al. (2012) identified 8 different HINT1 mutations (see, e.g., 601314.0001-601314.0007) in affected individuals from 33 families with autosomal recessive axonal neuropathy with neuromyotonia. All mutations were in homozygous or compound heterozygous state. The mutations were identified ...