Autosomal dominant deafness–onychodystrophy syndrome—often shortened to DDOD—is a very rare genetic condition. Children are typically born with severe to ...

Autosomal dominant spastic paraplegia type 9B is a very rare inherited nerve condition in the hereditary spastic paraplegia (HSP) family. It mainly causes ...

Hereditary spastic paraplegia type 9 (SPG9) is a rare, inherited nerve condition. It mainly affects the long nerve fibers that run from the brain to the legs ...

Autosomal dominant chondrodysplasia punctata, Sheffield type, is a rare bone growth condition present from birth. “Chondrodysplasia punctata” means there are ...

Chondrodysplasia punctata, Sheffield type is an older name that doctors used for a mild, symmetrical form of chondrodysplasia punctata (CDP). Today, many ...

Autosomal dominant chondrodysplasia punctata is a rare, inherited bone-growth condition in which a baby is born with tiny “specks” of calcium at the ends of ...

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy (without contractures) is a rare inherited nerve–muscle condition. It mainly ...

DYNC1H1-related lower-extremity–predominant autosomal dominant proximal spinal muscular atrophy (often shortened to SMA-LED1 when it is caused by the DYNC1H1 ...

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic nerve-and-muscle condition. It begins in infancy or ...

Autosomal dominant childhood-onset proximal spinal muscular atrophy (SMA) without contractures is a rare, inherited nerve-and-muscle disorder. “Autosomal ...

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a rare, inherited nerve-and-muscle disorder. It mainly ...

BICD2-Related Lower-Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a very rare, inherited nerve-and-muscle ...

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (SMALED2) is a rare inherited nerve-and-muscle disorder. It mainly weakens ...

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures is a rare, inherited nerve-and-muscle condition. Children develop ...

Charcot-Marie-Tooth neuropathy type 2W (CMT2W) is a rare, inherited nerve disorder. It mainly damages the long “wires” of the peripheral nerves—called ...

HARS1-related Charcot-Marie-Tooth disease (often called CMT2W) is an inherited nerve condition that mainly damages the long “wires” (axons) of the peripheral ...

Autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W) is a hereditary nerve disorder that mainly damages the long peripheral nerves that move your ...

Charcot–Marie–Tooth (CMT) is a group of inherited nerve disorders that slowly damage the long nerves of the arms and legs. These nerves carry signals that let ...

Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M)  is a rare, inherited nerve disease. It mainly damages the long “wires” of the ...

Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the ...