Autosomal recessive limb-girdle muscular dystrophy type 2D is a genetic muscle disease. It happens when both copies of a gene called SGCA are changed (mutated). This gene makes a protein named ...
Maghrebian myopathy is an inherited muscle disease that weakens the muscles around the hips and shoulders (the “limb-girdle” muscles). Doctors also call it gamma-sarcoglycanopathy or limb-girdle ...
Autosomal recessive limb-girdle muscular dystrophy caused by SGCG mutation (γ-sarcoglycanopathy / LGMDR5) is a genetic muscle disorder. It happens when both copies of a person’s SGCG gene ...
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic muscle disease that mainly weakens the muscles around the hips and shoulders (the “limb-girdle” areas). It happens ...
Autosomal-recessive limb-girdle muscular dystrophy caused by DYSF mutations (LGMD2B) is a muscle disease you inherit in an autosomal-recessive way. Both copies of your DYSF gene have harmful changes. ...
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 parent) have changes (variants). The DYSF ...
Autosomal recessive limb-girdle muscular dystrophy type 2A is a genetic muscle disease. It mainly weakens the shoulder and hip (limb-girdle) muscles. It happens when a gene called CAPN3 does not work ...
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a very rare inherited brain-and-eye disorder. People develop changes in the brain’s white matter ...
KIDAR is a rare inherited condition that mainly affects the skin (ichthyosis and thick, rough patches), the eyes (keratitis—painful inflammation and scarring of the cornea), and hearing (usually ...
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 and are short in height. Their long ...
Autosomal recessive intermediate Charcot–Marie–Tooth disease is a hereditary nerve disorder that weakens the peripheral nerves—the long nerves that carry movement (motor) and feeling (sensory) ...
Teebi–Naguib–Al-Awadi syndrome is a very rare, inherited birth-difference condition first described in families from Kuwait. Children are typically short for their age and have a recognizable pattern ...
Facio-Digito-Genital Syndrome, Kuwait type is a very rare, inherited condition that mainly affects the face, the fingers and toes, and the male genitals. Children are usually short for their age and ...
Aarskog-like syndrome is a rare genetic condition that looks very similar to Aarskog–Scott syndrome but does not always meet every classic feature or may be caused by different genes. It mainly ...
Segawa syndrome is a rare movement disorder where the brain does not make enough dopamine, a chemical that helps muscles move smoothly. Because of this shortage, the muscles tighten and twist ...
Distal hereditary motor neuropathy, autosomal recessive type 2, is a nerve disease that mainly damages motor neurons—the long wires (axons) that carry signals from the spinal cord to muscles. Because ...
Autosomal recessive distal spinal muscular atrophy 2 (DSMA2) is a very rare, inherited nerve-and-muscle disorder. It mainly damages the lower motor neurons that control muscles farthest from the ...
Petit–Fryns syndrome is a very rare, inherited condition that causes progressive loss (breakdown) of the small bones in the hands and feet (this is called distal osteolysis). People may also have ...
Autosomal recessive cutis laxa type 2, progeroid type is a rare genetic condition that makes the skin loose and wrinkled and also affects many body systems. In the progeroid type (often due to ...
Autosomal recessive cutis laxa type 2A (ARCL2A) is a rare inherited condition where the skin is loose, hangs in folds, and does not spring back normally. It happens because of harmful changes ...
