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• Vol.62 No.2
• CLINICA NEUROL, 62: 152−156, 2022
• Vol.62 No.2 contents

Brief Clinical Note

Survey of patients with advanced-stage Okinawa-type neurogenic muscular atrophy (hereditary motor and sensory neuropathy with proximal dominant involvement: HMSN-P)

Masahiko Taniguchi, M.D.¹⁾, Yuki Yorishima, M.D.²⁾, Hiroshi Shoji, M.D.²⁾, Makoto Ide, M.D.³⁾, Yusuke Kumura, Ph.D.⁴⁾ and Keisuke Kunisaki, Ph.D.⁴⁾

¹⁾ Department of Surgery, St. Mary's Hospital
²⁾ Department of Neurology, St. Mary's Hospital
³⁾ Healthcare-Center, St. Mary's Hospital
⁴⁾ Rehabilitation Unit, St. Mary's Hospital

We conducted a survey of 16 Japanese patients (9 males, 7 females) aged 48-70 years in the advanced-stage Okinawa-type neurogenic muscular atrophy (i.e. hereditary motor and sensory neuropathy with proximal dominant involvement: HMSN-P) by a questionnaire asking the patients' disease name notification, acceptance, and expectations for treatment. In amyotrophic lateral sclerosis (ALS), since symptoms such as four-limb motor weakness and respiratory disorder are serious, patients are notified of the disease name at each progression stage. Individuals with HMSN-P exhibit ALS-like severe motor paralysis, but HMSN-P shows autosomal dominant inheritance, and progresses slowly (over >30 years). Many of the present patients who had one parent with the disease were able to predict what their diagnosis would be. However, several patients stated that they could not sleep for several months due to the shock of the diagnosis and their concern about how to explain to their children that the disease is hereditary. All patients in the advanced stage of HMSN-P progress to severe proximal dominant quadriplegia and ultimately need auxiliary tools such as a wheelchair. New developments toward a specific HMSN-P treatment are expected, with methods such as nucleic acid medicine.
Full Text of this Article in Japanese PDF (1239K)

(CLINICA NEUROL, 62: 152−156, 2022)
key words: Okinawa-type neurogenic muscular atrophy, hereditary motor and sensory neuropathy with proximal involvement, questionnaire survey, disease name notification

(Received: 19-Dec-20)