[Treating hereditary neuropathies : a dream come true?].

Hereditary neuropathies have been the subject of recent major therapeutic advances. Treatments based on antisense oligonucleotides (ASO) and small interfering RNA (siRNA) have been developed and are now commercially available to treat hereditary transthyretin amyloidosis (hTTR) and porphyria. More recently, a CRISPR-Cas9 genomic editing treatment targeting the TTR gene has been developed and is being tested in patients with hTTR.

[What have we learned about chronic inflammatory demyelinating polyradiculoneuropathyin the last twenty years ?].

chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) has been widely described during the last quarter of the twentieth century. The last 20 years have seen decisive progress in its understanding. The diagnostic criteria have been simplified and the steps of the diagnostic process have been clarified.

[Small fiber neuropathy diagnosis].

Small fiber neuropathies affect small, poorly myelinated sensory Aδ and amyelinated C autonomic fibers. Neuropathic pain is often the main symptom. Positive diagnosis is based on the presence of deficient thermo-algesic sensory signs and/or dysautonomic signs with normal neurography.

[Muscle disease in the adults: when to suspect it?].

Muscle diseases or myopathies have heterogeneous clinical presentations and etiologies. The principal sign is muscular weakness, whose distribution can help diagnostic orientation. Exercise intolerance, even without weakness at rest, can indicate an underlying myopathy.

[Neurological shoulder pain and weakness : practical attitudes].

Shoulder pain or paresis should be assessed carefully, as there are many possible causes, which can be osteoarticular, degenerative, inflammatory, or neurological. Weakness or pain can be related to cervicobrachialgia, plexitis, or focal mononeuropathy. The clinical picture should identify any muscular or mechanical origin of paresis responsible for pseudo-paretic functional limitation.

[Cramps and fasciculations: is it amyotrophic lateral sclerosis?].

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease of the adult age. It is an aggressive condition with a mean disease duration of only 3 to 5 years, characterized by progressive weakness and atrophy of limb, bulbar, and respiratory muscles. In general, death is caused by chronic hypoventilation due to respiratory insufficiency.

[Muscle cramps].

Muscle cramps are very common and can reduce quality of life. There are multiple causes, including some physiological conditions, metabolic, endocrine, vascular disorders or neuromuscular diseases. Adequate management first requires differentiating cramps from other muscular phenomena.

Multifocal Motor Neuropathy with Persistent Conduction Block: The Seminal Case.

Although multifocal motor neuropathy (MMN) is now recognized as a distinct, albeit rare, neurological condition, the path to its recognition was long and winding. This article provides an insight into the medical history of MMN "patient zero" and the first scientific publication that led to the recognition of MMN by the medical community. Multifocal motor neuropathy is nowadays recognized as a disease that produces asymmetric muscle weakness and cramping, with spontaneous motor unit activity (fasciculations and myokymia) but without sensory disorder.

Motor unit number index as an individual biomarker: Reference limits of intra-individual variability over time in healthy subjects.

Objective: Motor unit number index (MUNIX) is proposed to monitor neuromuscular disorders. Our objective is to determine the intra-individual variability over time of the MUNIX.

Methods: In 11 different hospital centres, MUNIX was assessed twice, at least 3 months apart (range 90-360 days), in tibialis anterior (TA), abductor pollicis brevis (APB), abductor digiti minimi (ADM) and deltoid muscles in 118 healthy subjects.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Importance: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels.

Objectives: To improve the clinical, biomarker, and molecular delineation of AOA1 and provide genotype-phenotype correlations.

Design, Setting, And Participants: This retrospective analysis included the clinical, biological (especially regarding biomarkers of the disease), electrophysiologic, imaging, and molecular data of all patients consecutively diagnosed with AOA1 in a single genetics laboratory from January 1, 2002, through December 31, 2014.

Anti-TNF alpha medications and neuropathy.

We studied the clinical, electrophysiological, and pathological features, outcome, and frequency of anti-tumor necrosis factor alpha (a-TNF) medications-induced neuropathies (ATIN) in patients with inflammatory disorders. Of 2,017 patients treated with a-TNF medication, 12 patients met our inclusion criteria for a prevalence of 0.60% and an incidence of 0.

Acute painful diabetic neuropathy: an uncommon, remittent type of acute distal small fibre neuropathy.

Introduction: Acute painful diabetic neuropathy (APDN) is a distinctive diabetic polyneuropathy and consists of two subtypes: treatment-induced neuropathy (TIN) and diabetic neuropathic cachexia (DNC). The characteristics of APDN are (1.) the small-fibre involvement, (2.

[Neurological manifestations in musculoskeletal disorders].

Musculoskeletal disorders are a crossroad among diverse specialties: neurology, rehabilitation, orthopedics, occupational medicine and psycho-traumatology. They are integrated into occupational medicine and encompass overuse syndromes, repeated micro-trauma and focal compressive neuropathies linked with professional or sports' activity. Neurological manifestations are omnipresent.

[The entrapment neuropathy: a treatable cause of musculoskeletal pain].

A canal syndrome induces clinical manifestations secondary to the entrapment of a peripheral nerve passing through an inextensible anatomical structure. The injured nerve induces stereotyped or atypical semiology requiring frequently a neurophysiological examination. The most frequently encountered entrapment neuropathies of the upper and lower extremities are reviewed and the treatment discussed, based on immobilization, prescription of oral prednisone, local steroid injection or surgical decompression.

Efficacy of lidocaine patch 5% in the treatment of focal peripheral neuropathic pain syndromes: a randomized, double-blind, placebo-controlled study.

Peripheral neuropathic pain syndromes (PNPS) are difficult to treat because commonly used analgesics are often ineffective when, for example, touch-evoked allodynia, hyperalgesia, and pain paroxysms are present. To investigate whether lidocaine patch 5% treatment is also effective in postherpetic neuropathy (PHN) and in other PNPS, 40 patients with various forms and localizations of PNPS completed a prospective, randomized, placebo-controlled, two-way, cross-over study in three medical hospitals. Patients suffering from pain in a localized skin area with intensity above 40 mm visual analog scale (VAS) and a stable consumption of pain medication were included in this study.

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.

Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA.