Autosomal recessive axonal neuropathy with neuromyotonia
Synonyms: ARAN-NM · ARCMT2-NM · Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive axonal neuropathy with neuromyotonia | ARAN-NM · ARCMT2-NM · Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia |
| fr | Neuropathie axonale autosomique récessive avec neuromyotonie | ARAN-NM · ARCMT2-NM · Maladie de Charcot-Marie-Tooth autosomique récessive type 2 avec neuromyotonie |
| de | Axonale Neuropathie mit Neuromyotonie, autosomal-rezessiv | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, mit Neuromyotonie · ARAN-NM · ARCMT2-NM |
| es | Neuropatía axonal autosómica recesiva con neuromiotonía | ARAN-NM · ARCMT2-NM · Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2 con neuromiotonía |
| it | Neuropatia assonale autosomica recessiva con neuromiotonia | ARAN-NM · ARCMT2-NM · Malattia di Charcot-Marie-Tooth tipo 2, autosomica recessiva, con neuromiotonia |
| nl | Autosomaal recessieve axonale neuropathie met neuromyotonie | ARAN-NM · ARCMT2-NM · Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 met neuromyotonie |
| pt | Neuropatia axonal autossómica recessiva com neuromiotonia | |
| pl | Autosomalna recesywna neuropatia aksonalna z neuromiotonią | ARAN-NM · ARCMT2-NM · Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 z neuromiotonią |
| cs | Autozomálně recesivní axonální neuropatie s neuromyotonií | ARAN-NM · ARCMT2-NM · Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, typ 2 s neuromyotonií · Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2 s neuromyotonií |
| uk | Аутосомно-рецесивна аксональна нейропатія з нейроміотонією | ARAN-NM · ARCMT2-NM · Аутосомно-рецесивна хвороба Шарко-Марі-Тута 2 типу з нейроміотонією |
| zh | 常染色体隐性遗传轴索性神经病伴神经性肌强直 | 常染色体隐性夏科-马里-图斯病2型伴神经性肌强直 |
| tr | Nöromiyotoni ile seyreden otozomal resesif aksonal nöropati | ARAN-NM · ARCMT2-NM · Nöromiyotoni ile seyreden otozomal çekinik Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137200 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0007646 | E | validated | |
| UMLS | C5700127 | E | validated | |
| GARD | 12353 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HINT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4912 | ENSG00000169567 | 601314 | 5q23.3 | histidine triad nucleotide binding protein 1 | 22961002[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 families | Worldwide | Family(ies) | Validated | 22961002[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
47 annotations · validated 2019-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0100288 | EMG: myokymic discharges | Diagnostic criterion |
| HP:0002411 | Myokymia | |
| HP:0002486 | Myotonia | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0030198 | Fatigable weakness of distal limb muscles | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0012899 | Handgrip myotonia | |
| HP:0007289 | Limb fasciculations | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001315 | Reduced tendon reflexes | |
| Occasional (29-5%) | ||
| HP:0001771 | Achilles tendon contracture | |
| HP:0001284 | Areflexia | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0003409 | Distal sensory impairment of all modalities | |
| HP:0008991 | Exercise-induced leg cramps | |
| HP:0001371 | Flexion contracture | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0002505 | Loss of ambulation | |
| HP:0003552 | Muscle stiffness | |
| HP:0003401 | Paresthesia | |
| HP:0003760 | Percussion-induced rapid rolling muscle contractions | |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0003376 | Steppage gait | |
| HP:0002273 | Tetraparesis | |
| HP:0009077 | Weakness of long finger extensor muscles | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| HP:0002356 | Writer's cramp | |
| Very rare (<4-1%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004686 | Short third metatarsal | |
| HP:0001328 | Specific learning disability | |
| HP:0001171 | Split hand | |
| HP:0002943 | Thoracic scoliosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30001929[PMID]_24131582[PMID]_30006059[PMID]_22961002[PMID]_1851512[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324442
- This record as JSON: /data/d/324442.json