Maghrebian myopathy is an inherited muscle disease that weakens the muscles around the hips and shoulders (the “limb-girdle” muscles). Doctors also call it ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal recessive limb-girdle muscular dystrophy caused by SGCG mutation (γ-sarcoglycanopathy / LGMDR5) is a genetic muscle disorder. It happens when both ...
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic muscle disease that mainly weakens the muscles around the hips and shoulders ...
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 ...
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 ...
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 ...
Autosomal recessive intermediate Charcot–Marie–Tooth disease is a hereditary nerve disorder that weakens the peripheral nerves—the long nerves that carry ...
Teebi–Naguib–Al-Awadi syndrome is a very rare, inherited birth-difference condition first described in families from Kuwait. Children are typically short for ...
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. ...
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 ...
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 ...
Distal hereditary motor neuropathy, autosomal recessive type 2, is a nerve disease that mainly damages motor neurons—the long wires (axons) that carry signals ...
Autosomal recessive distal spinal muscular atrophy 2 (DSMA2) is a very rare, inherited nerve-and-muscle disorder. It mainly damages the lower motor neurons ...
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 ...
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 ...
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 ...
Autosomal recessive cutis laxa, pulmonary emphysema type 1 (ARCL1) is a rare inherited connective-tissue disorder. Babies or young children have very loose, ...
