Neurol. praxi. 2015;16(2):92-98
Hereditary neuropathy
- 1 Neurologická klinika 2. LF UK a FN v Motole, Praha
- 2 Klinika dětské neurologie 2. LF UK a FN v Motole, Praha
- 3 2. ortopedická klinika 2. LF UK a FN v Motole, Praha
- 4 Klinika rehabilitace a tělovýchovného lékařství 2. LF UK a FN v Motole, Praha
Hereditary neuropathy is a most common inherited neuromuscular disease. The most common subtype is called Charcot-Marie-Tooth disease and affect motor and sensory nerve fibers and the prevalence is approximately 40 individuals in every 100 000. In most cases clinical symptoms involves atrophies of distal feet muscles, feet deformities and absent ankle reflexes. The classification is based on nerve conduction velocity – typ 1- demyelinating – motor conduction velocity is less than 38 m/s and type 2 – axonal – motor conduction velocity is above 38 m/s. The molecular geneticists discovered more than 60 genes with different causative mutations and have made a major contribution to molecular genetic classification of the CMT disease. The current therapeutic approach is based on physiotherapy, prosthetic and orthopedic treatment, because causative treatment is not available. The prognosis of CMT patients is relatively good, because the standard life expectancy is not impaired, but has a big impact on the quality of life.
Keywords: hereditary neuropathy, Charcot-Marie-Tooth disease, molecular genetic, electromyography, pes cavus
Published: May 1, 2015 Show citation
References
- Baránková L, Vyhnálková E, Züchner S, Hühne K, Mazanec R, Seeman P. GDAP1 mutations in Czech families with early-onset CMT. Neuromuscular Disorders 2007; 17: 482-489.
Go to original source... 
Go to PubMed... - Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993; 262: 2039-2042. Go to original source... Go to PubMed...
- Bergoffen J, Trofatter J, Pericak-Vance MA, Haines J, Chance PF, Fischbeck KH. Linkage localization of X-linked Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 1993; 52: 312-318.
- Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Peripheral Neuropathy 1993;3rd ed.: WB Saunders, Philadelphia: 1094-1136.
- Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980; 17(5): 329-336. Go to original source... Go to PubMed...
- Chance PF, Anderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Distech CM, Bird TD. DNA deletion associated with hereditary neuropaty with lability to pressure palsies. Cell 1993; 72(1): 143-151. Go to original source... Go to PubMed...
- Charcot JM, Marie P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev.Med (Paris) 1886; 6: 97-138.
- Irobi J, Van den Bergh P, Merlini L, Verellen Ch, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, DeJonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 2004; 127: 2124-2130. Go to original source... Go to PubMed...
- Kobesová A. Instruktáž postupu individuální fyzioterapie u pacienta s polyneuropatií In: Vacek J. Manuál rehabilitační a fyzikální terapie. 1st ed., Praha, Raabe. 2012: B6.1/1-36.
- Kobesová A, Smetana P, Suzan J, Smetana V, Baránková L, Horáček O. Zásady protetické péče u pacientů s hereditární motoricko-senzorickou neuropatií (HMSN). Rehabil a fyz lék 2004; 4: 169-75.
- Laššuthová P, Mazanec R, Vondráček P, Šišková D, Haberlová J, Sabová J, Seman P. High frequency SH3TC2 mutations in Czech HMSN I patients. ClinGenet 2011; 80(4): 334-345. Go to original source...
- Lupski JR, deOca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ. Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. DNA duplication associated with Charcot Marie Tooth disease type 1A. Cell 1991; 66(2): 219-232. Go to original source... Go to PubMed...
- Mazanec R, Horáček O, Kobesová A, Smetana P. Hereditární neuropatie. Cesk Slov Neurol 2009; 72/105(1): 5-17.
- Nicholson G, Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses. J Neurol Neurosurg Psychiat 1996; 61: 43-46. Go to original source... Go to PubMed...
- Pareyson D, Marchesi C. Diagnosis, natural history and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009; 8: 654-667. Go to original source... Go to PubMed...
- Seeman P, Mazanec R, Čtvrtečková M, Smilková D. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.Int J Mol Med 2001; 8: 461-468. Go to original source... Go to PubMed...
- Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard E, Aula P, Savontaus ML. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum. Mutat.1998; 12: 59-68. Go to original source... Go to PubMed...
- Smetana P, Teyssler P, Smetana V, Kobesová A, Horáček O, Mazanec R, Seeman P, Trč T. Možnosti a indikace ortopedické léčby u onemocnění Charcot-Marie-Tooth (CMT). Postgraduální medicína 2008; 10(8): 880-885.
- Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. European Journal of Human Genetics 2009; 17: 703-710. Go to original source... Go to PubMed...
- Tooth HH. The Peroneal Type of Progressive Muscular Atrophy HK.Lewis and Co 1886; London.
- Windpassinger Ch, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van Den Berg P, Verellen C, Van Maldergem E, Merlini L, De Jonghe P, Timmerman V, Prosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrom. Nature Genetics 2004; 36(3): 271-276. Go to original source... Go to PubMed...
- Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Tournev I, Auer-Grumbach M, Petersen BS, Fransen E, Van Damme P, Previtali SC, Bernet G, Todorovic S, Ishpekova B, Lechner S, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijcks P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Loss of function mutation int HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics 2012; 44(10): 1080-1083. Go to original source... Go to PubMed...