Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy (AD dAMN–MFM) Syndrome is an inherited kidney disorder where the last part of the kidney tubule (the “distal” tubule) cannot ...
Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy Syndrome is a genetic disorder that mainly affects motor nerves (the wires that make muscles move) and muscle fibers (the ...
Dominant Deafness–Onychodystrophy (DDOD) syndrome is a very rare genetic condition present from birth. People with this syndrome have sensorineural hearing loss (the inner ear or hearing nerve does ...
Autosomal dominant deafness–onychodystrophy syndrome—often shortened to DDOD—is a very rare genetic condition. Children are typically born with severe to profound sensorineural hearing loss (a ...
Autosomal dominant spastic paraplegia type 9B is a very rare inherited nerve condition in the hereditary spastic paraplegia (HSP) family. It mainly causes slowly worsening stiffness and weakness in ...
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 (the corticospinal tracts). Over time, ...
Autosomal dominant chondrodysplasia punctata, Sheffield type, is a rare bone growth condition present from birth. “Chondrodysplasia punctata” means there are tiny spots of calcium seen on X-rays at ...
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 certain bones (seen on early X-rays as ...
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy (without contractures) is a rare inherited nerve–muscle condition. It mainly weakens the muscles of the thighs and hips ...
DYNC1H1-related lower-extremity–predominant autosomal dominant proximal spinal muscular atrophy (often shortened to SMA-LED1 when it is caused by the DYNC1H1 gene) is a rare inherited nerve–muscle ...
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic nerve-and-muscle condition. It begins in infancy or childhood. It mainly weakens the “proximal” ...
Autosomal dominant childhood-onset proximal spinal muscular atrophy (SMA) without contractures is a rare, inherited nerve-and-muscle disorder. “Autosomal dominant” means one changed copy of the gene ...
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a rare, inherited nerve-and-muscle disorder. It mainly weakens the muscles of the legs—especially ...
BICD2-Related Lower-Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a very rare, inherited nerve-and-muscle condition. It mainly weakens the muscles of ...
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (SMALED2) is a rare inherited nerve-and-muscle disorder. It mainly weakens the large “proximal” muscles of the hips ...
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures is a rare, inherited nerve-and-muscle condition. Children develop weakness and shrinking of muscles, mainly in ...
HARS1-related Charcot-Marie-Tooth disease (often called CMT2W) is an inherited nerve condition that mainly damages the long “wires” (axons) of the peripheral nerves that carry signals to and from ...
Autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W) is a hereditary nerve disorder that mainly damages the long peripheral nerves that move your feet and hands and carry sensation from ...
Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves called axons. These nerves ...
Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves called axons. These nerves ...
