Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset.
BACKGROUND
Sporadic late-onset nemaline myopathy (SLONM) is a rare intractable acquired myopathy characterized by progressive muscle weakness and atrophy, usually with middle to late adult onset. Autologous peripheral blood stem cell transplantation (auto-PBSCT) has been reported to be a promising treatment for SLONM.


METHODS
In this study we performed clinical characterization, muscle histopathological analysis, and muscle power monitoring after auto-PBSCT in a 27-year-old HIV-negative man with monoclonal gammopathy.


RESULTS
He showed improved muscle strength after treatment with high-dose melphalan and auto-PBSCT.


CONCLUSIONS
Considering the recent reports of successful treatment of SLONM, early and correct diagnosis of this condition in association with monoclonal gammopathy is important. SLONM should be added to the list of diseases to consider in the differential diagnosis of progressive muscle weakness with young adult onset.
Department of Neurology, Federation of National Public Service Personnel Mutual Aid Associations Toranomon Hospital, Tokyo, Japan; Department of Neurology, University of Tokyo, Graduate School of Medicine, Tokyo, Japan; Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, Tokyo, 105-8470, Japan.
Meiko Hashimoto
MH
Maeda
Hikari
H
Ohta
Koji
K
Izutsu
Jun
J
Shimizu
Yoshikazu
Y
Uesaka
D000328:Adult; D015897:Comorbidity; D003937:Diagnosis, Differential; D018450:Disease Progression; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D017696:Myopathies, Nemaline / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D010265:Paraproteinemias / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D016896:Treatment Outcome
HIV-negative patients; auto-PBSCT; monoclonal gammopathy; sporadic late-onset nemaline myopathy; young adult onset