The 20th Congress of RSCANP,

Băile Felix, 18-21.09.2019

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The 42st National Conference of Child and Adolescent Neurology and Psychiatry and Allied Professions with international participation


Myalgias and arthralgias in muscular and neuromuscular pathology of child and adolescent

Autor: Constantin Lupu Sanda Adriana Măgureanu Adriana Cojocaru
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SUMMARY
Th e knowledge on the diseases of the peripheral nervous system and of the primary muscle diseases is updated and systematized.
Multiple clinical forms of heredodegenerative sensory-motor diseases nominated in the human genome by the position of the respective mutation. We
present an introduction to osteo-skeletal and joint algesiology in these diseases. Th e chronic infl ammatory, vascular and metabolic mechanisms that
produce pain are described.
Key words: demyelinating diseases, peripheral neuromuscular heredodegenerative pathology, genetic mutations, congenital arthrogryposis, algal pathology

Heredodegenerative motor and sensory diseases represent the most common pathology of the peripheral nerves at all ages [1]. Pain is reported in these forms of pathology having two pathological aspects. The first aspect is due to Charcot arthralgias [7] produced by diffuse inflammation and by intra and periarticular collagen deficiency accompanied by the progressive reduction of mobility due to the muscular or neuromuscular pathology [3].
The degenerative pathology primarily affects the medullary neurons in the anterior horns, then the motor and sensory fibres, followed by the degeneration of the sensory neurons in the posterior horns. Due to the sensory-motor neuropathy, the muscular sensitivity decreases and is abolished, and the pain in the degenerative diseases of the peripheral neurons is due entirely to the skeletal and joint changes. The myo-articular deficiencies in the muscular and neuromuscular pathology are caused by the degeneration of the motor units formed by the medullary neurons A and B that transmit trophic and motor inflows through the axons A and B of the peripheral nerves [4].
During the demyelination and absence of the Schwann cell sleeve, interferences, crossinnervation and the functions of the terminations at the junction with the muscle fibres are disrupted [4]. Pain occurs in the inflamed receptor sensory structures, being transmitted by the centripetal fibres to the medullary neurons in the posterior horns [5]. Thus, AR and X-linked mutational genetic defects induce evolutionary degenerative repercussions of motor and sensory transmissions [11,12].
The classical knowledge established by Ramon y Cajal, Gh. Marinescu, J. Aicardi, followed by modern spectroscopic analyses describes the NEURON as a trophic and metabolic unit, which communicates through the 3 regions:
– the receptor region formed of dendrites and the neuronal body, having contacts with other neurons in the ganglia and the posterior medullary horns;
– the connector region through which the connection between the receptor and the axon strand is made. The sensory and motor neurons encode the information of the osteo-myo-tenoarticular trophicity, achieving the functioning of these segments through thymic circuits.
Gh. Marinescu and J. Aicardi describe the 3 forms of degeneration of medullary neurons and peripheral nerves as follows:
– the type of Wallerian degeneration;
– the type of segmental demyelination with alteration of Schwann cells with the possibility of remyelination, increased irritability and pain [4];
– detection of the degenerative and necrotising evolving neuropathy with the absence of the trophic stimulus, initially manifested by proximal conductivity present but accompanied by the degeneration of the terminal axons with evolution towards the loss of motor and sensory stimulus [1,11], which includes the osteoarticular deficits and the progressive reduction of the muscle mass.

At the end of the nineteenth century and in the twentieth century, neurological researchers discovered many forms of peripheral degenerative pathology described by N. Friedreich, Jean Marie Charcot (1825-1893), Pierre Marie (1852-1940), Toot Howard-Henry (1856-1926) followed by Werdnig and Hoffman, Gh.Marinescu, I. Turnev and others. They described the semiology of the peripheral motor neuron syndrome: flaccid paralysis = global hypotonia, affecting voluntary automatic movements (paralytic walking), abolition of ROT by the abolition of afferent pathways, slow occurrence of osteo-arthro-teno-muscular dystrophy, fasciculations in uninjured muscles. of evolutionary trophic and vascular disorders [5]
The pains in the degeneration of the peripheral nerves look like neuralgia, causalgia, visceral pain and thalamic pain in evolution. Acute pain is described in Gullian-Barre syndrome, and chronic pain forms due to muscle and joint pathology have been classified by J. M. Charcot, Duchenne, Beker, Werdnig-Hoffman, KugelbergWelander and others [12.16]
Objective sensory syndromes of the peripheral nerves manifest themselves according to the lesion site, having as symptoms pain, paraesthesia and deficiencies of the exteroceptive sensitivity.
Radicular sensory disorders are manifested by pain tributary to the territory of the demyelinated sensitive roots.
– Syndrome of posterior medullary horn including that of the grey commissure due to traumas with intrathecal pains, to meningeal tumours or to vertebral sarcomas.
– Sensitivity syndrome of the posterior cord produces sublesional, homo-lateral pain, mimicking the pain in the tabes [7,8].
– The medullary section syndrome is well defined neurologically by definitive losses at the sensorimotor level having chronic pain or anaesthesia of a body segment. DIFFERENTIAL DIAGNOSIS In hypotonia or “the floppy infant” syndrome, we follow the specification by neurological and para clinic deficiency, the case belonging to the peripheral nerve lesion syndrome or to muscular diseases, knowing that the initial clinical signs in spinal muscular atrophy and congenital myopathies are similar in the neonatal period: hypotonia, joint weaknesses and lack of spontaneous mobility. In cases with predominance of skin and ligament laxity, we focus on the differentiation from the 4 clinical forms of the Ehler Danlos syndrome, to congenital Fukuyama dystrophy and the Kugelberg-Welander disease [16]. Neuropaediatricians know that we should not rush to the positive diagnosis until we exclude diseases with musculoskeletal hypotonia from renal tubular acidosis, unilateral Horner hypotonic syndrome, medullary epidural haematoma, spinal tumours, thoracic and lumbosacral disc herniations, foetal alcohol syndrome [12].
We emphasize that in 50% of cases with hypotonia-areflexia, the presence of identical diseases is noted in the family genealogical tree [13]. Pain in neuromuscular syndromes may oscillate between total loss of sensitivity and the presence of chronic pain determined by the level of degenerative lesions [14] The neurosensory degeneration is accompanied by dilatory vasculitides that maintain the joint pains [15]. A particular aspect of degenerative arthropathies is that of congenital arthrogryposis in which we find antenatal joint blockage [9]. AD and AR forms are known in this disease [10].
CONCLUSIONS
The authors present AD, AR and X-linked mutational genetic defects with degenerativeevolutionary repercussions in motor and sensory transmissions that induce pain in Charcot arthritides and arthroses. In the muscular and neuromuscular pathology, the degeneration of the motor units formed by the medullary neurons and the axons occurs, which no longer transmit trophic and motor stimuli to the terminal buttons.
During demyelination and loss of the Schwan cell sleeve, peripheral nerve syndrome, sensory and osteoteno-articular deficits are installed. Sensory disorders and pain in these forms of pathology are due to altered trophicity and joint metabolism. Neuroaxonal and joint degeneracies induce sensory alterations that result in limiting movements and pain specific to degenerative arthritides and arthroses.
Knowing the degenerative clinical forms of these degeneracies, we can advise the target Genetic Advice
– and guide the personalized therapeutic relationships for each case.
In the continuation of the present presentation, we will describe in a next article, clinical and evolutionary aspects with the respective particularities found in the AR neurodegenerative cases in the isolates from the Romanian population.

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