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Autosomal recessive peripheral neuropathy with neuromyotonia (ARAN-NM) is a relatively newly described disease associated with mutations in the HINT1 gene. It accounts for a significant part of the poorly differentiated forms of axonal polyneuropathies. We present the first in Russia description of the genetically confirmed case of ARAN-NM in a boy aged 14 years and 11 months without the hereditary-tainted anamnesis. On presentation, the patient experienced progressive distal muscular weakness, asymmetric foot deformity, gait disorders and minimal manifestations of neuromyotonia (stiffness in the fingers). During examination, we detected an increase in the level of creatine phosphokinase up to 635 U/l, a disturbance of conduction of motor and, to a lesser extent, sensory fibers of the peripheral nerves (according to the stimulation electromyography, EMG), denervation-reinnervation changes, single positive acute waves, fibrillation potentials, complex repeated discharge (according to the data of needle EMG). In the study of exome, a homozygous mutation c.110G>C, p.R37P was determined in exon 01 of the HINT1 gene, which confirmed the presence of ARAN-NM. A molecular-genetic examination of the patient's immediate relatives was carried out. The described case is compared with literature data. An overview of currently available information on ARAN-NM is provided. Diagnostic criteria of the disease are presented.

The botulinum therapy remains the most effective and safe method for reducing local spasticity in patients with cerebral palsy (CP). However, the list of indications for injections of botulinum toxin type A (BTA) in cerebral palsy is limited both in terms of target muscles and the treatment initiation age. In this regard, doctors are guided by the data of clinical studies, reviews and consensuses of experts, which are advisory in nature. One of the most urgent issues in the modern CP botulinum therapy is the evaluation of risks andbenefits of initiating injections at an early age (up to 2 years) in order to prevent orthopedic complications and stimulate the optimal motor development of a child. The review analyzes the history of the development of modern approaches to the use of botulinum therapy in cerebral palsy and the tactics of selecting target muscles and doses for multilevel injections. The authors focus on the latest international data on the feasibility and safety of reducing the admissible initiation age for botulinum therapy in cerebral palsy. The results from the studies of the effect of the early initiation of BTA injections on motor development, formation of secondary orthopedic complications in children under 2 years of age, and morphological changes in the neuromotor apparatus in animal experiments are presented. The concept of «key muscles» is considered in detail as one of the possible reference points in the planning of safe andeffective early injections.