[…] and Ragged Red Muscle Fibers MERRF/MELAS overlap disease Myoclonic Epilepsy and Psychomotor Regression Progressive Encephalopathy Epilepsy, Strokes, Optic atrophy, & Cognitive decline Leigh Disease (Maternally Inherited Leigh Syndrome) Kearns-Sayre Syndrome [meduniwien.ac.at]

Some subtypes of LGMD1 can have central nervous system involvement with intellectual disability and/or epilepsy and rarely movement disorders. [mdfgauteng.org]

Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects. [emedicine.medscape.com]

PMID: 23143600 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. [ncbi.nlm.nih.gov]

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]

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]

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]

Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5. [lecturio.com]

Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'. [patient.info]

These symptoms have progressed to affect his gait, now walks with an abnormal gait (waddlimg) associated with lower back pain. [chs-journal.com]