Distal hereditary motor neuropathy type V information
Medical condition
Distal hereditary motor neuropathy type V
Other names
dHMN V
Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities.[1] It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely related in symptoms and genetic cause. The diagnostic difference in these diseases is the presence of sensory loss in the extremities.[2] There are seven classifications of dHMNs, each defined by patterns of inheritance, age of onset, severity, and muscle groups involved. Type V (sometimes notated as Type 5) is a disorder characterized by autosomal dominance, weakness of the upper limbs that is progressive and symmetrical, and atrophy of the small muscles of the hands.[3]
^Seo, Ah Jung; Park, Byung Sun; Jeong, Na Young; Kim, Doyen; Kim, Sunghoon; Park, Chan; Jung, Junyang; Huh, Youngbuhm (2014). "Adenoviral-mediated mouse model of motor impairment in distal spinal muscular atrophy type V". Animal Cells and Systems. 18 (5): 311–317. doi:10.1080/19768354.2014.950330. ISSN 1976-8354. S2CID 73528377.
^Middleton, L. T.; Christodoulou, K.; Mubaidin, A.; Zamba, E.; Tsingis, M.; Kyriacou, K.; Abu-Sheikh, S.; Kyriakides, T.; Neocleous, V.; Georgiou, D. M.; El-Khateeb, M.; Al-Qudah, A.; Horany, K. (1999). "Distal Hereditary Motor Neuronopathy of the Jerash Type". Annals of the New York Academy of Sciences. 883 (1 CHARCOT–MARIE): 439–442. Bibcode:1999NYASA.883..439M. doi:10.1111/j.1749-6632.1999.tb08604.x. ISSN 0077-8923. PMID 29086938. S2CID 27780275.
^Rakočević-Stojanović, V.; Milić-Rašić, V.; Perić, S.; Baets, J.; Timmerman, V.; Dierick, I.; Pavlović, S.; De Jonghe, P. (2010). "N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome". Journal of the Neurological Sciences. 296 (1–2): 107–109. doi:10.1016/j.jns.2010.06.015. ISSN 0022-510X. PMID 20598714. S2CID 21874798.
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