Journal of Clinical Neuromuscular Disease最新文献

Abstract: This issue of What is in the Literature focuses on the Guillain-Barré syndrome. Guillain-Barré syndrome is a monophasic illness, and there is new information about precipitating factors, changes in nerve conduction studies over time, potential biomarkers, optimal treatment, and features in uncommon patient populations.

Abstract: Hereditary neuropathies are typically associated with an early onset of symptoms, but same types of neuropathies may also manifest late, after the age 50 years. A 62-year-old African American woman presented with a 6-year history of gait unsteadiness and has been using a walker since the age 57 years after an unwitnessed fall. Gradual worsening of walking difficulties was later followed by decreased dexterity. The family history was negative for neuromuscular disorders, including neuropathy. On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie Tooth Examination Score was 12. Previous electrodiagnostic testing at the age 60 years showed severe sensorimotor demyelinating polyneuropathy with bilateral severe carpal tunnel syndrome. Genetic testing showed a homozygous pathogenic mutation in SH3TC2 gene (c.2860C>T; p.Arg954*), associated with CMT4C. CMT4C is the most common recessive demyelinating sensorimotor polyneuropathy and overall comprises 0.4%-1.7% of all patients with Charcot-Marie-Tooth disease. It is more common in French Canadians and Spanish Roma and in recent natural history study; only 1 of 56 patients was African American. This report demonstrates sporadic occurrence of CMT4C in other ethnic groups as well.

Objectives: In 2015, a new term "nodopathy" was introduced to represent a group of neuropathy because of autoantibodies at the node of Ranvier and paranodal area. This review was conducted to highlight the electrophysiologic characteristics of acute and chronic nodopathies by the newly introduced term: "nodal conduction block (CB); CB without temporal dispersion or slow nerve conduction velocity" and by introducing a new term: "internodal CB; CB with temporal dispersion or/and slow nerve conduction velocity".

Methods: Through PubMed searches, 23 cases of acute (<4 weeks of neuropathy) nodopathy and 12 cases of chronic (>4 weeks of neuropathy) nodopathy are identified. Two other required inclusion criteria are positive nodal antibody test and detailed nerve conduction data with or without figure. All existing data were analyzed to see whether these cases had nodal or internodal CB.

Results: Among 23 cases of acute nodopathy, 11 had nodal CB, 9 internodal CB, and 3 mixed CB. Thus, nodal CB was observed in 61% of acute nodopathy cases and internodal CB in 52% of acute nodopathy cases. Among 12 cases of chronic nodopathy, all 12 had internodal CB.

Conclusions: Nodal CB is the nerve conduction characteristic of acute nodopathy, but internodal CB does not rule out acute nodopathy. Internodal CB is the nerve conduction characteristic of chronic nodopathy.

Objective: Ultrasound studies in inclusion body myositis (IBM) have reported a characteristic pattern of increased echointensity in the flexor digitorum profundus (FDP) with relative sparing of the flexor carpi ulnaris (FCU). We examined the relationship between echointensity of the FDP and FCU muscles and hand strength or patient-reported outcomes (PROs).

Methods: A total of 15 patients with IBM were recruited. Ultrasound images of the FDP and FCU muscles were obtained by a point-of-care ultrasound and graded using the modified Heckmatt score. Hand grip and neutral pinch strength were measured by dynamometry. PROs were assessed by the IBM Upper Extremity Function Scale.

Results: FDP and/or FCU modified Heckmatt score showed a significant relationship with grip, neutral pinch strength, and PROs.

Conclusions: Point-of-care ultrasound examination of the forearm may serve as an extension of the neuromuscular examination. The semi-qualitative echointensity rating based on modified Heckmatt score seems to correlate well with the objective strength measurement and PROs.