Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability.

Introduction/aims: The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference MUNIX values in healthy children.

Methods: Sixty control children (28 females) were grouped as under 5 years (n = 16), 5-10 years (n = 15), 10-15 years (n = 20), and 15-17 years (n = 9).

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.

Background And Aims: Charcot-Marie-Tooth disease (CMT) is a rare hereditary neuropathy that affects peripheral nerves in the upper and lower limbs. To distinguish between the different forms of the disease, electrophysiological criteria are essential. Furthermore, identifying the genetic cause is crucial for providing accurate genetic counseling.

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Background: The BTB-KELCH protein Gigaxonin plays key roles in sustaining neuron survival and cytoskeleton architecture. Indeed, recessive mutations in the Gigaxonin-encoding gene cause Giant Axonal Neuropathy (GAN), a severe neurodegenerative disorder characterized by a wide disorganization of the Intermediate Filament network. Growing evidences suggest that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type 2 (CMT2).

Dynamic equinus with hindfoot valgus in children with hemiplegia.

In children with hemiplegia, it is important to distinguish between equinus with hindfoot varus (equinovarus) or valgus (equinovalgus). Premature onset of medial gastrocnemius (GM) EMG in individuals with equinus is well documented. Premature onset of Peroneus longus (PL) EMG has been described in neurologically impaired adults with equinovalgus, but not in children.

Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.

Aims: Our objective was to clarify the clinical heterogeneity in Duchenne muscular dystrophy (DMD).

Methods: The French dystrophinopathy database provided clinical, histochemical and molecular data of 278 DMD patients (mean longitudinal follow-up: 14.2 years).

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.

We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.