[Initiatives for supporting the health care transition in various regions: activities of transitional care support centers].

The Japanese Society of Neurology's Special Committee on Measures for Transition from Pediatric to Adult Health Care held a workshop to discuss the activities of the transitional care support centers (TCSCs). The following points were addressed: (1) from Kanagawa Prefecture, the activities of the TCSC, which is set up alongside the Intractable Disease Consultation Support Center and the Intractable Disease Information Coordination Center, separated from medical institutions, and the efforts addressing cases of difficult transitions and consultations where patients cannot transition from specific pediatric chronic diseases to designated intractable diseases; (2) from Nagano Prefecture, the supporting the health care transition undertaken by the neurologist as intractable disease medical coordinator, and (3) the efforts of the transitional health care support coordinator at the TCSC established at the university hospital in collaboration with the Nagano Children's Hospital and the government. For the creation of a seamless support system, we hope that the pioneering activities reported at this time will spread nationwide.

Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter study.

Background: The transient receptor potential cation channel subfamily V member 2 (TRPV2) is a stretch-sensitive calcium channel. TRPV2 overexpression in the sarcolemma of skeletal and cardiac myocytes causes calcium influx into the cytoplasm, which triggers myocyte degeneration. In animal models of cardiomyopathy and muscular dystrophy (MD), TRPV2 inhibition was effective against heart failure and motor function.

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.

Background: Biallelic POLR3B mutations cause a rare hypomyelinating leukodystrophy. De novo POLR3B heterozygous mutations were recently associated with afferent ataxia, spasticity, variable intellectual disability, and epilepsy, and predominantly demyelinating sensorimotor peripheral neuropathy.

Methods: We performed whole-exome sequencing (WES) of DNA samples from 804 Charcot-Marie-Tooth (CMT) cases that could not be genetically diagnosed by DNA-targeted resequencing microarray using next-generation sequencers.

Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy.

Background: Ultrasonography (US) is a noninvasive and patient-friendly tool for the evaluation of peripheral nerves. In motor neuron diseases, amyotrophic lateral sclerosis (ALS) has been reported to show the atrophy of peripheral nerves on US. However, the US findings are still unclear in spinal and bulbar muscular atrophy (SBMA), an adult-onset lower motor neuron disease caused by an abnormal CAG repeat expansion in the androgen receptor gene.

Measurement of excitation-contraction coupling time in critical illness myopathy.

Objective: This study aimed to develop a simple and reliable technique to assess excitation-contraction (E-C) coupling for early diagnosis of critical illness myopathy (CIM).

Methods: We prospectively performed clinical and electrophysiological examinations on patients admitted to intensive care unit (ICU). In addition to full neurological examinations and routine nerve conduction study, motor related potential (MRP) was recorded using an accelerometer attached to the base of hallux after tibial nerve stimulation, and E-C coupling time (ECCT) was measured from the latency difference between soleus compound muscle action potential (CMAP) and MRP.

Infection control in the respiratory care of coronavirus disease-19 patients with neuromuscular diseases.

Close contact is unavoidable in the care of patients with neuromuscular diseases (NMD). In addition, respiratory physiotherapy and noninvasive ventilation generate massive amounts of aerosols. Caring for a patient suffering from coronavirus disease-19 raises concerns about the risk of infection not only to the caregiver and/or medical staff but also to other individuals in contact with these personnel.

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.

Familial hypokalaemic periodic paralysis is a rare skeletal muscle disease caused by the dysregulation of sarcolemmal excitability. Hypokalaemic periodic paralysis is characterized by repeated episodes of paralytic attacks with hypokalaemia, and several variants in coding for Ca1.1 and coding for Na1.

[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].

The patient was a 29-year-old male. He took his first steps at two-and-a-half years old, but his physical strength deteriorated and he became non-ambulatory at 12 years old. He had respiratory failure at the age of 20, and finally underwent tracheostomy with invasive positive-pressure ventilation (TPPV).