Salazar VM

Language: Spanish
References: 7
Page: 10-12
PDF size: 89.43 Kb.

ABSTRACT

Charcot-Marie-Tooth disease (CMT) patients displays a hereditary neurodegenerative disease of the peripheral nervous.Typical features consist of distal muscle weakness and atrophy, impaired sensation and absent or hypoactive deep tendon reflexes. In several cases, neurophysiological studies may confirm a decrease in auditive function identifying sensorineural hypoacusis.
Clinically relevant hipoacusis has not been identified in patients displaying duplication of PMP22, instead hypoacusis has been documented in more complex conditions with heredity autosomal recesive that involves optical atrophy.

REFERENCES

1. Nyamkhishig Sambuughin, Astrid de Bantel, Shona McWilliams, Kumaraswamy Sivakumar. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 2003; 60: 506-508.

2. Neijenhuis K, Beynon A, Snik A, van Engelen B, van den Broek P. Auditory processing in patients with Charcot-Marie-Tooth disease type 1A. Otology & Neuro-otology 2003; 24: 872-877.

3. Bähr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. J Neurol Neurosurg Psychiatry 1999; 66: 202-206.

4. Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW. A novel locus for X linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. Neurology 2005; 64: 1964-1967.

5. Verhagen WIM, Huygen PLM, Gabree ls-Festen AAWM, Engelhart M, van Mierlo PJWB, van Engelen BGM. Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutation. Otology & Neurotology 2005; 26: 405-414.

6. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RHM, Thomas PK. Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 1998; 121: 399-408.

7. Szigeti K, García CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management. Genet Med 2006; 8(2): 86-92.