Sleep Disorders in Neuromuscular Diseases: Treatable Conditions

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Background

Sleep is a major factor both in clinical science and for the treatment of Neuromuscular Disorders. Several neuromuscular disorders present various degrees of disordered sleep. This is important to diagnose, and prevent sleep apnoeas and hypoxemias. In DM1 and DM2 the arousal system and brain are variably deranged in juvenile and adult DM1 and

less in DM2; drugs and Cognitive Behavioral Treatment are often used. In FSHD1 respiratory muscle weakness is prominent in childhood cases, In fact, severe manifestations

of facioscapulohumeral dystrophy (FSHD) may be associated with sleep-disordered breathing (SDB),

including obstructive sleep apnoea (OSA) and nocturnal hypoventilation (NH), but prevalence data are

still relatively scarce.

In LGMD several patients suffer from respiratory disorders especially in cases of juvenile onset, for instance



In the field of ataxias by correction of sleep disorders, there is a definite improvement of cognition; the same applies to cases of LGMD where BiPAP treatment brings back individuals to work. Several new drugs and monoclonal antibodies are appearing in the field of Myasthenia - a group of disorders where sleep disorders are difficult to treat for possible MG crisis.

Recent advances have demonstrated that by using BiPAP apparatus in NMD there is both improvement of QoL, cognition and social relationships. Clinical management of Excessive Day Sleepiness in individuals with cerebellar ataxia, Myotonic Dystrophy and LGMD is therefore crucial for improving daily functioning, as it may improve health-related perceptions and allow for individuals to be more independent and self-satisfied.

Consistent with the depression in many NMD individuals, there is strong correlation between depression symptoms and subjective sleep quality. However, it is necessary to consider whether sleep mediates negative affect also by the frequent nocturnal apnoea in these disorders.



Excessive daytime sleepiness is frequent in DM1 cases, and it has been treated with variable success with Modafinil; concentration difficulty is present in DM1. Mild sleep problems can be detected in DM2. It is well known that nocturnal apnoeas occur both in Duchenne muscular dystrophy and Spinal muscular atrophies where nocturnal ventilation can prolong life, the effect of current therapy from steroid to personalised drugs is changing the scenario. In the realm of limb-girdle dystrophies advanced Calpainopathy patients present respiratory insufficiency and sleep apnoeas, Disferlinopathy and sarcoglycanopathy have OSAS. Late Onset Pompe Disease( LOPD) sleep hours improve with ERT. Amyloidosis now susceptible to treatment have sleep disorders. Parkinson's disease is definitely a motor problem albeit mostly on central basis, but the muscle rigidity and slowed movements throw a neuromuscular component into it that could affect sleep. Lastly, the current dopaminergic treatment has difficulty in handling dreams and sleep disorders.



This research topics aims to incorporate a variety of nuanced yet related information. The overarching goal is to explore diagnosing sleep-related problems in genetic and acquired neuromuscular diseases. Moreover, available treatment opportunities presented in order to improve neuromuscular patients quality of life.

Keywords: Sleep, Apnea, Duchenne, Pompe, Myasthenia, Hypoxia, Myotonic Dystrophy, FSHD, LGMD, QoL

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