TY - JOUR
T1 - Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene
T2 - A case report and review of the literature
AU - Zambon, Alberto Andrea
AU - Natali Sora, Maria Grazia
AU - Cantarella, Giovanna
AU - Cerri, Federica
AU - Quattrini, Angelo
AU - Comi, Giancarlo
AU - Previtali, Stefano Carlo
AU - Bolino, Alessandra
PY - 2017/5/1
Y1 - 2017/5/1
N2 - Charcot–Marie–Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management.
AB - Charcot–Marie–Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management.
KW - Autosomal recessive neuropathy
KW - CMT4B1
KW - MTMR2
KW - Vocal cord palsy
KW - Vocal fold laterofixation
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UR - http://www.scopus.com/inward/citedby.url?scp=85011961746&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2017.01.006
DO - 10.1016/j.nmd.2017.01.006
M3 - Article
AN - SCOPUS:85011961746
VL - 27
SP - 487
EP - 491
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 5
ER -