Human disease

neuronopathy, distal hereditary motor, autosomal dominant 8

MONDO:0010839

Mondo defines it as: “Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.”

1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.

Animal diseases

By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.

Human genes

Each human gene of these disease groups that Open Targets links to this disease.

Drugs tested for this disease

Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.

No drug has been tested for this disease.