Progressive muscular dystrophy (MONDO:0016106; Orphanet:206644) is recognized as a rare hereditary condition within the neuromuscular disease spectrum. No formal definition is available in this packet for the umbrella entity. Three genes are catalogued in association with conditions classified under this designation: ACTA1, TTN, and VMA21. Two GeneReviews chapters are linked to this entry—Hereditary Myopathy with Early Respiratory Failure and Salih Myopathy—both of which describe specific subtypes rather than the broader progressive muscular dystrophy category; clinical section content is not available from either chapter in this packet.

Phenotype data are not available in this packet for progressive muscular dystrophy as an umbrella classification. The two linked GeneReviews chapters (Hereditary Myopathy with Early Respiratory Failure; Salih Myopathy) describe specific subtypes and do not provide phenotype data applicable to the broader category.

Three genes are associated with conditions catalogued within this classification: ACTA1 (actin alpha 1, skeletal muscle), TTN (titin), and VMA21. No inheritance pattern data are available in this packet. No ClinGen validity classifications are recorded for these gene associations.

Diagnostic criteria are not available in this packet for progressive muscular dystrophy as an umbrella entity.

No approved treatments are listed in this packet for progressive muscular dystrophy. No orphan drug designations are recorded for this umbrella classification.

Prognosis data are not available in this packet for progressive muscular dystrophy as an umbrella classification.

Ten clinical trials are active or recently recruiting for conditions classified within or related to progressive muscular dystrophy, reflecting ongoing investigational activity in this area of rare neuromuscular disease.