MCID: NRM016
MIFTS: 30

Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

MalaCards integrated aliases for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

Name: Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 57 75 29 13 6
Gamstorp-Wohlfart Syndrome 57 12 53 25 75 15 40
Nman 57 53 25 75
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 with Neuromyotonia 53 25 59
Autosomal Recessive Axonal Neuropathy with Neuromyotonia 53 25 59
Myokymia, Myotonia, and Muscle Wasting 57 53 25
Aran-Nm 53 25 59
Autosomal Recessive Neuromyotonia and Axonal Neuropathy 12 25
Arcmt2-Nm 53 59
Myokymia, Myotonia and Muscle Wasting 12
Myokymia Myotonia and Muscle Wasting 75
Isaacs Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive axonal neuropathy with neuromyotonia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first or second decade
most patients retain ambulation with aids
motor neuropathy more prominent than sensory neuropathy


HPO:

32
neuromyotonia and axonal neuropathy, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

OMIM : 57 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 (see, e.g., CMT2A1, 118210) and distal hereditary motor neuropathy (see, e.g., HMN1, 182960). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012). (137200)

MalaCards based summary : Neuromyotonia and Axonal Neuropathy, Autosomal Recessive, also known as gamstorp-wohlfart syndrome, is related to axonal neuropathy and neuropathy, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Neuromyotonia and Axonal Neuropathy, Autosomal Recessive is HINT1 (Histidine Triad Nucleotide Binding Protein 1). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are hyperhidrosis and elevated serum creatine phosphokinase

Disease Ontology : 12 A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.

Genetics Home Reference : 25 Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.

UniProtKB/Swiss-Prot : 75 Neuromyotonia and axonal neuropathy, autosomal recessive: 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 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves.

Related Diseases for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Diseases related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 axonal neuropathy 10.3
2 neuropathy 10.3

Symptoms & Phenotypes for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle cramps
fasciculations
muscle stiffness
foot drop
distal muscle weakness and atrophy, upper and lower limbs
more
Skeletal Feet:
foot deformities

Neurologic Central Nervous System:
impaired gait due to peripheral neuropathy

Neurologic Peripheral Nervous System:
myokymia
axonal motor neuropathy
axonal sensory neuropathy
neuromyotonia
action myotonia
more
Head And Neck Mouth:
percussion contraction of the tongue (1 family)

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

137200

Human phenotypes related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 elevated serum creatine phosphokinase 32 HP:0003236
3 myotonia 32 HP:0002486
4 skeletal muscle atrophy 32 HP:0003202
5 abnormality of the foot 32 HP:0001760
6 sensory axonal neuropathy 32 HP:0003390
7 muscle cramps 32 HP:0003394
8 fasciculations 32 HP:0002380
9 foot dorsiflexor weakness 32 HP:0009027
10 distal sensory impairment 32 HP:0002936
11 muscle stiffness 32 HP:0003552
12 myokymia 32 HP:0002411

UMLS symptoms related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:


muscular fasciculation, muscle cramp, muscle rigidity, muscle spasticity, neuralgia, muscle weakness, muscular stiffness, myalgia, myokymia

Drugs & Therapeutics for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
2 Screening and Natural History: Primary Lateral Sclerosis and Related Disorders Active, not recruiting NCT00015444

Search NIH Clinical Center for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Genetic Tests for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Genetic tests related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 29 HINT1

Anatomical Context for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

MalaCards organs/tissues related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

41
Brain, Spinal Cord, Tongue, Skeletal Muscle

Publications for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Articles related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

# Title Authors Year
1
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue. ( 26760849 )
2016
2
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity. ( 24131582 )
2014
3
HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia. ( 23043279 )
2013

Variations for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 HINT1 p.Arg37Pro VAR_069212 rs149782619
2 HINT1 p.His51Arg VAR_069213 rs397514491
3 HINT1 p.Cys84Arg VAR_069214 rs397514489
4 HINT1 p.Gly89Val VAR_069215 rs397514490
5 HINT1 p.Gly93Asp VAR_069216 rs397514493
6 HINT1 p.His112Asn VAR_069217 rs373849532

ClinVar genetic disease variations for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 HINT1 NM_005340.6(HINT1): c.110G> C (p.Arg37Pro) single nucleotide variant Pathogenic rs149782619 GRCh37 Chromosome 5, 130500789: 130500789
2 HINT1 NM_005340.6(HINT1): c.110G> C (p.Arg37Pro) single nucleotide variant Pathogenic rs149782619 GRCh38 Chromosome 5, 131165096: 131165096
3 HINT1 NM_005340.6(HINT1): c.250T> C (p.Cys84Arg) single nucleotide variant Pathogenic rs397514489 GRCh37 Chromosome 5, 130495271: 130495271
4 HINT1 NM_005340.6(HINT1): c.250T> C (p.Cys84Arg) single nucleotide variant Pathogenic rs397514489 GRCh38 Chromosome 5, 131159578: 131159578
5 HINT1 NM_005340.6(HINT1): c.266G> T (p.Gly89Val) single nucleotide variant Pathogenic rs397514490 GRCh37 Chromosome 5, 130495255: 130495255
6 HINT1 NM_005340.6(HINT1): c.266G> T (p.Gly89Val) single nucleotide variant Pathogenic rs397514490 GRCh38 Chromosome 5, 131159562: 131159562
7 HINT1 NM_005340.6(HINT1): c.334C> A (p.His112Asn) single nucleotide variant Pathogenic rs373849532 GRCh37 Chromosome 5, 130495187: 130495187
8 HINT1 NM_005340.6(HINT1): c.334C> A (p.His112Asn) single nucleotide variant Pathogenic rs373849532 GRCh38 Chromosome 5, 131159494: 131159494
9 HINT1 NM_005340.6(HINT1): c.152A> G (p.His51Arg) single nucleotide variant Pathogenic rs397514491 GRCh37 Chromosome 5, 130498329: 130498329
10 HINT1 NM_005340.6(HINT1): c.152A> G (p.His51Arg) single nucleotide variant Pathogenic rs397514491 GRCh38 Chromosome 5, 131162636: 131162636
11 HINT1 NM_005340.6(HINT1): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs397514492 GRCh37 Chromosome 5, 130498297: 130498297
12 HINT1 NM_005340.6(HINT1): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs397514492 GRCh38 Chromosome 5, 131162604: 131162604
13 HINT1 NM_005340.6(HINT1): c.278G> A (p.Gly93Asp) single nucleotide variant Pathogenic rs397514493 GRCh37 Chromosome 5, 130495243: 130495243
14 HINT1 NM_005340.6(HINT1): c.278G> A (p.Gly93Asp) single nucleotide variant Pathogenic rs397514493 GRCh38 Chromosome 5, 131159550: 131159550
15 HINT1 NM_005340.6(HINT1): c.203A> T (p.Asp68Val) single nucleotide variant Uncertain significance rs371048016 GRCh37 Chromosome 5, 130498278: 130498278
16 HINT1 NM_005340.6(HINT1): c.203A> T (p.Asp68Val) single nucleotide variant Uncertain significance rs371048016 GRCh38 Chromosome 5, 131162585: 131162585
17 HINT1 NM_005340.6(HINT1): c.117T> C (p.Leu39=) single nucleotide variant Benign rs78949626 GRCh37 Chromosome 5, 130498364: 130498364
18 HINT1 NM_005340.6(HINT1): c.117T> C (p.Leu39=) single nucleotide variant Benign rs78949626 GRCh38 Chromosome 5, 131162671: 131162671
19 HINT1 NM_005340.6(HINT1): c.111+6_111+7insC insertion Likely benign rs770851222 GRCh38 Chromosome 5, 131165088: 131165089
20 HINT1 NM_005340.6(HINT1): c.111+6_111+7insC insertion Likely benign rs770851222 GRCh37 Chromosome 5, 130500781: 130500782
21 HINT1 NM_005340.6(HINT1): c.330C> T (p.His110=) single nucleotide variant Benign/Likely benign rs139624223 GRCh38 Chromosome 5, 131159498: 131159498
22 HINT1 NM_005340.6(HINT1): c.330C> T (p.His110=) single nucleotide variant Benign/Likely benign rs139624223 GRCh37 Chromosome 5, 130495191: 130495191
23 HINT1 NC_000005.10: g.(?_131159427)_(131165225_?)del deletion Pathogenic GRCh37 Chromosome 5, 130495120: 130500918
24 HINT1 NC_000005.10: g.(?_131159427)_(131165225_?)del deletion Pathogenic GRCh38 Chromosome 5, 131159427: 131165225
25 HINT1 NM_005340.6(HINT1): c.243C> T (p.Gly81=) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 130495278: 130495278
26 HINT1 NM_005340.6(HINT1): c.243C> T (p.Gly81=) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 131159585: 131159585

Expression for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Search GEO for disease gene expression data for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive.

Pathways for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

GO Terms for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Sources for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

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