Cognitive impairment in neuromuscular disorders.

Area of Science:

• Neurology
• Neuroscience
• Genetics

Background:

• Peripheral nervous system diseases are increasingly linked to central nervous system (CNS) involvement.
• Cognitive impairment is a recognized manifestation in several neuromuscular disorders.
• Understanding CNS involvement is crucial for comprehensive patient care.

Purpose of the Study:

• To review the clinical, genetic, neurofunctional, cognitive, and psychiatric deficits in neuromuscular disorders.
• To highlight the character of CNS involvement in various neuromuscular conditions.
• To correlate protein expression and function with cognitive deficits.

Main Methods:

• Systematic literature review of studies on neuromuscular disorders and CNS involvement.
• Analysis of clinical data, genetic findings, and neuroimaging results.
• Examination of cognitive and psychiatric assessments in affected individuals.

Main Results:

• Strong correlation between cognitive deficits and cerebral abnormalities in Duchenne muscular dystrophy, myotonic dystrophy, and mitochondrial encephalomyopathies.
• Elusive direct correlation between protein expression and cognitive deficits in congenital muscular dystrophies, congenital myopathies, ALS, APBD, and LGMDs.
• No clear cognitive deficits identified in spinal muscular atrophy and facioscapulohumeral dystrophy.

Conclusions:

• Neuromuscular disorders exhibit a spectrum of CNS involvement, impacting cognitive function.
• The relationship between peripheral disease pathology and central cognitive deficits varies significantly across different neuromuscular conditions.
• Further research is needed to elucidate the precise mechanisms underlying cognitive impairment in specific neuromuscular disorders.