Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive axonal neuropathy with neuromyotonia
Other namesGamstorp-Wohlfart syndrome, Myokymia, myotonia, and muscle wasting, ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, NMAN[1]
SpecialtyMedical 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]

Presentation

People with this disorder usually show the following symptoms: axonal neuropathy, atrophy (wasting/degeneration) of the muscles in the hands, feet and legs, chronic muscular weakness which is very apparent when exercise is being done, abnormal gait, high chance of accidental falls, and joint contractures, neuromyotonia, and myokymia. In some people, the axonal neuropathy ends up reducing their sensitivity to cold and hot temperatures and touch in the distal parts of the arms and legs.[8][9] Some of the symptoms worsen temporarily when a person with this disorder is exposed to cold temperatures.[10]

Causes

This disorder is caused by a homozygous mutation in the HINT1 gene, in chromosome 5 (c.334 C > A, p.H112 N).[11]

Diagnosis

Etimology

This condition was discovered in 1991 by Hahn et al., when they described two Chinese-Canadian siblings of the opposite sex. The male had difficulties releasing his grip, childhood-onset neuromyotonia and muscle stiffness, progressive motor neuropathy, finger cramping while and after writing, involuntary twitches of the finger, thigh and forearm muscles, foot drop-associated gait problems, hand weakness, hyporeflexia, and tongue percussion, his younger sister wasn't as affected as his brother, she only shared some of his symptoms, these include; upper and lower distal muscle weakness. Both siblings were revealed to have a chronic motor neuropathy, peripheral nerve fiber hyperexcitability, and multiple denervations. Muscle biopsies performed in the brother detected chronic partial denervation.[12]

Through the siblings reported by Hahn et al. and 50 new patients from 33 families across the world, it was found that this disorder is caused by HINT1 mutations.[13]

References

  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.
  8. ^ "Autosomal recessive axonal neuropathy with neuromyotonia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-25.
  9. ^ Peeters, Kristien; Chamova, Teodora; Tournev, Ivailo; Jordanova, Albena (2017-04-01). "Axonal neuropathy with neuromyotonia: there is a HINT". Brain. 140 (4): 868–877. doi:10.1093/brain/aww301. ISSN 0006-8950. PMC 5382946. PMID 28007994.
  10. ^ "Autosomal recessive axonal neuropathy with neuromyotonia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-25.
  11. ^ Caetano, Joana Serra; Costa, Carmen; Baets, Jonathan; Zimon PhD, Madgalena; Venâncio PhD, Margarida; Saraiva PhD, Jorge; Negrão, Luís; Fineza, Isabel (2014-01-01). "Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity". Pediatric Neurology. 50 (1): 104–107. doi:10.1016/j.pediatrneurol.2013.08.028. ISSN 0887-8994. PMID 24131582.
  12. ^ Hahn, A. F.; Parkes, A. W.; Bolton, C. F.; Stewart, S. A. (March 1991). "Neuromyotonia in hereditary motor neuropathy". Journal of Neurology, Neurosurgery, and Psychiatry. 54 (3): 230–235. doi:10.1136/jnnp.54.3.230. ISSN 0022-3050. PMC 1014391. PMID 1851512.
  13. ^ Zimoń, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De Vriendt, Els; Nikodinovic, Jelena; Parman, Yesim; Battaloğlu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo; Auer-Grumbach, Michaela (October 2012). "Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia". Nature Genetics. 44 (10): 1080–1083. doi:10.1038/ng.2406. ISSN 1546-1718. PMID 22961002. S2CID 205345993.

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