polydystrophy

Polydystrophy is a descriptive term used in medical literature to denote a pattern of dystrophic changes that affect two or more tissues or organ systems. It is not a single, standardized disease entity, and its exact definition varies among authors.

Clinical features depend on which tissues are involved. The most common manifestation is progressive muscle weakness and wasting (myopathy) or neuropathy overlapping with muscular dystrophy. In some individuals, dystrophic changes affect cardiac muscle, the retina, peripheral nerves, or connective tissues, leading to cardiomyopathy, vision impairment, or joint problems.

Etiology and pathogenesis are heterogeneous. Polydystrophy can arise from various genetic variants that disrupt shared cellular pathways essential for muscle integrity, membrane repair, cytoskeletal organization, or autophagy. Inherited patterns described range from autosomal dominant to autosomal recessive, with variable penetrance; somatic or mosaic variants have also been reported in some contexts. Because it is not a single gene disorder, genetic testing is guided by the specific clinical features and family history.

Diagnosis relies on clinical evaluation and is supported by laboratory and imaging findings. Serum muscle enzymes may be elevated, electromyography shows myopathic changes, imaging can show dystrophic muscle patterns, and genetic testing can identify causative variants. Muscle biopsy may reveal dystrophic changes such as fiber size variation, fiber splitting, degeneration, and connective tissue replacement, but findings are not specific to polydystrophy.

Management is multidisciplinary and supportive. It emphasizes maintaining mobility and respiratory function, monitoring cardiac status when applicable, optimizing nutrition, and addressing vision or hearing problems if present. There is no disease-modifying therapy specific to polydystrophy; treatment targets the affected tissues and symptoms. Prognosis is highly variable and depends on the tissues involved and the underlying genetic basis.