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Abstract
Fields syndrome is an extremely rare neuromuscular disorder, first reported in 1996, characterized by the combination of muscle weakness (neuromuscular abnormalities) and speech impairment (dysarthria). To date, only two known cases twin sisters from Wales have been documented in medical literature, making it one of the rarest syndromes ever identified. The precise etiology remains unknown, though the familial occurrence in twins suggests a potential genetic basis. However, due to the absence of further reported cases and limited genetic studies, no definitive causative gene or chromosomal abnormality has been identified. Clinically, Fields syndrome manifests as progressive neuromuscular decline, difficulty in movement, fatigue, and impaired coordination, often accompanied by speech difficulties.
Unlike other neuromuscular disorders such as muscular dystrophy, the syndrome is not associated with intellectual disability, which helps in its clinical differentiation. Diagnosis is primarily based on symptomatology and exclusion of other neuromuscular and metabolic conditions, given the absence of specific biomarkers or confirmatory tests. urrently, no targeted treatment
exists for Fields syndrome. Management is largely supportive, including physiotherapy, occupational therapy, and speech therapy, aiming to improve quality of life and maintain functional independence. The scarcity of cases poses a significant challenge for research, limiting insights into its genetic mechanisms and pathophysiology. Further documentation of new cases and
advancements in genomic studies are essential to establish a clearer understanding of the disorder. Fields syndrome represents a unique challenge to clinicians and researchers due to its extreme rarity, uncertain etiology, and lack of targeted therapies. Continued awareness, case reporting, and genetic research are critical for future progress.