[…] segmental hyalinosis Familial isolated restrictive cardiomyopathy Fibronectin glomerulopathy Frontometaphyseal dysplasia Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Keratosis [csbg.cnb.csic.es]

[…] of chromosome 14 Kapur-Toriello syndrome Kearns-Sayre syndrome Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kennedy disease Keratosis [se-atlas.de]

[…] syndrome Pantothenate kinase-associated neurodegeneration Paramyotonia congenita of Von Eulenburg Paraneoplastic limbic encephalitis Paraneoplastic neurologic syndrome Paraparetic variant of Guillain-Barré syndrome Paraplegia-intellectual disability-hyperkeratosis [se-atlas.de]

LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common. [patient.info]

LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal. [rarediseases.org]

Polymyositis This is more common in older individuals and is associated with a progressive and symmetrical proximal muscle weakness. On investigation, these patients have an increased creatinine kinase and are positive for anti-Jo-1 antibodies. [lecturio.com]

In this study, we applied the IDP on a PGM to diagnose a Vietnamese female who presented with proximal muscle weakness. Using this strategy, we identified a nonsense mutation in CAPN3 responsible for LGDM2A. [omicsonline.org]

[…] moderate proximal weakness Muscle cramping Enlargement of the calf muscles Some have no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness by age 50 Contractures * Includes alpha, beta, gamma [encyclopedia.com]