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Rigid spine syndrome associated with sensory‐motor axonal neuropathy resembling Charcot–Marie‐Tooth disease is characteristic of Bcl‐2‐associated athanogene‐3 gene mutations even without cardiac involvement
Author(s) -
Noury JeanBaptiste,
Maisonobe Thierry,
Richard Pascale,
Delague Valérie,
Malfatti Edoardo,
Stojkovic Tanya
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25631
Subject(s) - medicine , peripheral neuropathy , hereditary motor and sensory neuropathy , pathology , tooth disease , disease , endocrinology , diabetes mellitus
: Bcl‐2‐associated athanogene‐3 ( BAG3 ) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented but usually not as a key clinical feature. Methods : We report a 24‐year‐old woman with severe rigid spine syndrome and sensory‐motor neuropathy resembling Charcot–Marie–Tooth disease (CMT). Results : Muscle MRI showed severe fat infiltration without any specific pattern. Deltoid muscle biopsy showed neurogenic changes and discrete myofibrillar abnormalities. Electrocardiogram and transthoracic echocardiography results were normal. Genetic analysis of a panel of 45 CMT genes showed no mutation. BAG3 gene screening identified the previously reported c.626C>T, pPro209Leu, mutation. Discussion : This case indicates that rigid spine syndrome and sensory‐motor axonal neuropathy are key clinical features of BAG3 mutations that should be considered even without cardiac involvement. Muscle Nerve , 57 : 330–334, 2018