Dysferlin-related limb-girdle muscular dystrophy R2 (LGMDR2) is a rare, inherited muscle disease. It happens when a person is born with harmful changes ...

Autosomal-recessive limb-girdle muscular dystrophy caused by DYSF mutations (LGMD2B) is a muscle disease you inherit in an autosomal-recessive way. Both copies ...

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a genetic muscle disease. It happens when both copies of the DYSF gene (one from each ...

Pelvofemoral muscular dystrophy (PFMD) is an older descriptive name for a limb-girdle pattern of muscular dystrophy in which weakness starts in the pelvic and ...

Limb-Girdle Muscular Dystrophy Due to Calpain-3 Deficiency is a genetic muscle disease. It mainly weakens the muscles around the hips and shoulders (the ...

Leyden–Möbius muscular dystrophy is an older clinical name doctors used for the pelvifemoral type of limb-girdle muscular dystrophy (LGMD)—weakness starts ...

Calpainopathy is a genetic muscle disease caused by harmful changes in the CAPN3 gene. CAPN3 makes the enzyme calpain-3, which works inside the muscle’s ...

Calpain-3-related limb-girdle muscular dystrophy R1 (LGMDR1) is a genetic muscle disease. It happens when a gene called CAPN3 does not work properly. CAPN3 ...

Calpain-3 deficiency limb-girdle muscular dystrophy—historically called LGMD2A, now LGMDR1 (calpainopathy)—is an inherited muscle-wasting disease caused by ...

Autosomal recessive limb-girdle muscular dystrophy caused by CAPN3 mutation/Calpainopathy is a muscle disease in which the muscles around the hips and ...

Autosomal recessive limb-girdle muscular dystrophy type 2A is a genetic muscle disease. It mainly weakens the shoulder and hip (limb-girdle) muscles. It ...

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a very rare inherited brain-and-eye disorder. People develop changes ...

Ichthyosiform erythroderma means the skin is red all over and covered with dry, scaling patches that look like fish scales. “Ichthyosiform” means ...

KIDAR is a rare inherited condition that mainly affects the skin (ichthyosis and thick, rough patches), the eyes (keratitis—painful inflammation and scarring ...

Autosomal recessive Kenny-Caffey syndrome is a very rare, inherited bone and hormone disorder. It starts in babies and continues for life. Children grow slowly ...

Young-onset PRKN-parkinsonism is a form of Parkinson’s disease (PD) that starts at a young age—often before 40—and is caused by harmful changes (pathogenic ...

PRKN young-onset Parkinson disease is a form of Parkinson’s that usually starts before age 40 (often in the teens or 20s) due to changes in the PRKN (parkin) ...

Parkin type of early-onset Parkinson disease is a form of Parkinson’s that happens when both copies of a gene called PRKN (also written PARK2) do not work ...

Autosomal recessive juvenile Parkinson disease 2 is a genetic type of Parkinson’s disease that starts very young—often in the teens or early adulthood. It ...

Intermediate Charcot–Marie–Tooth disease is a group of inherited nerve disorders that slowly damage the long nerves to the legs and arms. The intermediate form ...