Autosomal recessive axonal neuropathy with neuromyotonia (original) (raw)
Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases (mostly from Europe and North America) have been reported since 2014.
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| dbo:abstract | Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases (mostly from Europe and North America) have been reported since 2014. (en) |
| dbo:alias | (en) Gamstorp-Wohlfart syndrome, Myokymia, myotonia, and muscle wasting, ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, NMAN (en) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Autorecessive.svg?width=300 |
| dbo:wikiPageID | 70865086 (xsd:integer) |
| dbo:wikiPageLength | 9049 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1097533123 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Electromyography dbr:Hyporeflexia dbr:Myotonia dbc:Autosomal_recessive_disorders dbr:Medical_genetics dbr:Gait dbc:Genetic_diseases_and_disorders dbr:Chromosome_5 dbr:Foot_drop dbr:HINT1 dbr:Neuromyotonia dbr:Exercise_intolerance dbr:Myokymia dbr:Canadians_of_Chinese_descent |
| dbp:name | Autosomal recessive axonal neuropathy with neuromyotonia (en) |
| dbp:specialty | dbr:Medical_genetics |
| dbp:synonyms | Gamstorp-Wohlfart syndrome, Myokymia, myotonia, and muscle wasting, ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, NMAN (en) |
| dbp:wikiPageUsesTemplate | dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition |
| dcterms:subject | dbc:Autosomal_recessive_disorders dbc:Genetic_diseases_and_disorders |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases (mostly from Europe and North America) have been reported since 2014. (en) |
| rdfs:label | Autosomal recessive axonal neuropathy with neuromyotonia (en) |
| owl:sameAs | wikidata:Autosomal recessive axonal neuropathy with neuromyotonia https://global.dbpedia.org/id/pXUf |
| prov:wasDerivedFrom | wikipedia-en:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia?oldid=1097533123&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Autorecessive.svg |
| foaf:isPrimaryTopicOf | wikipedia-en:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia |
| is foaf:primaryTopic of | wikipedia-en:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia |
