Spinal muscular atrophy

Spinal muscular atrophy   What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). Most of the nerve cells that control...

Phenylketonuria

Phenylketonuria   What is Phenylketonuria?Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the...

MDP syndrome

MDP syndrome   What is MDP syndrome?Mandibular hypoplasia-deafness-progeroid syndrome is a very rare, genetic, premature aging disease.  Signs and symptomsMDP is characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with...

MLD syndrome

MLD syndrome   What is MLD syndrome?MLD is an acronym for Metachromatic Leukodystrophy. MLD is an autosomal recessive genetic disorder which at the moment has no cure. MLD is directly caused by a deficiency of the enzyme Arylsulfatase-A. Without this enzyme...

Prader-Willi syndrome

Prader-Willi syndrome   What is Prader-Willi syndrome?Prader-Willi syndrome is a complex genetic condition. It occurs when there is lack of expression of one or more genes in a specific region on the chromosome 15 that was inherited from the father, the precise...

Patau syndrome

Patau syndrome   What is Patau syndrome?Patau syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called Trisomy 13. Patau syndrome affects about 1 in every...