Autosomal recessive axonal neuropathy with neuromyotonia information

Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive axonal neuropathy with neuromyotonia
Other names	Gamstorp-Wohlfart syndrome, Myokymia, myotonia, and muscle wasting, ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, NMAN
Specialty	Medical genetics

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.^[2] According to OMIM, around 52 cases have been reported in medical literature^[3] However; new cases (mostly from Europe and North America) have been reported since 2014.^[4]^[5]^[6]^[7]

^ "Autosomal recessive axonal neuropathy with neuromyotonia".
^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive axonal neuropathy with neuromyotonia". www.orpha.net. Retrieved 2022-05-25.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ "OMIM Entry - # 137200 - NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN". omim.org. Retrieved 2022-05-25.
^ Caetano, Joana Serra; Costa, Carmen; Baets, Jonathan; Zimon Phd, Madgalena; Venâncio Phd, Margarida; Saraiva Phd, Jorge; Negrão, Luís; Fineza, Isabel (January 2014). "Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity". Pediatric Neurology. 50 (1): 104–107. doi:10.1016/j.pediatrneurol.2013.08.028. ISSN 1873-5150. PMID 24131582.
^ Jerath, Nivedita U.; Shy, Michael E.; Grider, Tiffany; Gutmann, Ludwig (December 2015). "A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States". Muscle & Nerve. 52 (6): 1110–1113. doi:10.1002/mus.24774. ISSN 1097-4598. PMID 26182879. S2CID 19535873.
^ Meng, Lingchao; Fu, Jun; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun (August 2018). "Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy". Neuromuscular Disorders. 28 (8): 646–651. doi:10.1016/j.nmd.2018.05.003. ISSN 1873-2364. PMID 30001929. S2CID 51619784.
^ Rauchenzauner, Markus; Frühwirth, Martin; Hecht, Martin; Kofler, Markus; Witsch-Baumgartner, Martina; Fauth, Christine (April 2016). "A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue". Neuropediatrics. 47 (2): 119–122. doi:10.1055/s-0035-1570493. ISSN 1439-1899. PMID 26760849. S2CID 40598133.

[1] "Autosomal recessive axonal neuropathy with neuromyotonia".

[2] RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive axonal neuropathy with neuromyotonia". www.orpha.net. Retrieved 2022-05-25.{{cite web}}: CS1 maint: numeric names: authors list (link)

[3] "OMIM Entry - # 137200 - NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN". omim.org. Retrieved 2022-05-25.

[4] Caetano, Joana Serra; Costa, Carmen; Baets, Jonathan; Zimon Phd, Madgalena; Venâncio Phd, Margarida; Saraiva Phd, Jorge; Negrão, Luís; Fineza, Isabel (January 2014). "Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity". Pediatric Neurology. 50 (1): 104–107. doi:10.1016/j.pediatrneurol.2013.08.028. ISSN 1873-5150. PMID 24131582.

[5] Jerath, Nivedita U.; Shy, Michael E.; Grider, Tiffany; Gutmann, Ludwig (December 2015). "A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States". Muscle & Nerve. 52 (6): 1110–1113. doi:10.1002/mus.24774. ISSN 1097-4598. PMID 26182879. S2CID 19535873.

[6] Meng, Lingchao; Fu, Jun; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun (August 2018). "Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy". Neuromuscular Disorders. 28 (8): 646–651. doi:10.1016/j.nmd.2018.05.003. ISSN 1873-2364. PMID 30001929. S2CID 51619784.

[7] Rauchenzauner, Markus; Frühwirth, Martin; Hecht, Martin; Kofler, Markus; Witsch-Baumgartner, Martina; Fauth, Christine (April 2016). "A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue". Neuropediatrics. 47 (2): 119–122. doi:10.1055/s-0035-1570493. ISSN 1439-1899. PMID 26760849. S2CID 40598133.