Disease Directory

Congenital myasthenic syndrome 14 is a neuromuscular disorder characterized by impaired muscle transmission due to a glycosylation defect. This condit...

Congenital myasthenic syndrome 15 is a condition that affects the neuromuscular junction, leading to muscle weakness and fatigability. It arises from...

Congenital myasthenic syndrome 16 is a neuromuscular disorder caused by mutations in the SCN4A gene. It affects the communication between nerves and m...

Congenital myasthenic syndrome 17 is a neuromuscular disorder caused by mutations in the LRP4 gene that affect the communication between nerves and mu...

Congenital myasthenic syndrome 18 is a condition that affects the function of the muscles due to a genetic mutation. This condition is one type of con...

Congenital myasthenic syndrome 19 is a neuromuscular disorder present from birth that impairs muscle strength and function. It is caused by pathogenic...

Congenital myasthenic syndrome 1A is a neuromuscular condition caused by pathogenic variants in the CHRNA1 gene that affect the communication at the n...

Congenital myasthenic syndrome 20 is a disorder affecting the neuromuscular junction that leads to muscle weakness and challenges with movement. It is...

Congenital myasthenic syndrome 21 is a neuromuscular condition present from birth that primarily affects muscle strength and eye movement. The disorde...

Congenital myasthenic syndrome 2A is an inherited neuromuscular disorder that affects the communication at the neuromuscular junction. It is caused by...

Congenital myasthenic syndrome 2C is a neuromuscular junction disorder characterized by early-onset muscle weakness. It is caused by compound heterozy...

Congenital myasthenic syndrome 3A is a neuromuscular disorder that primarily affects the transmission of nerve signals at the muscle due to defects at...

Congenital myasthenic syndrome 3B is a neuromuscular disorder that primarily affects the function of the muscle-endplate, leading to early onset progr...

Congenital myasthenic syndrome 3C is a neuromuscular disorder that presents in early life with muscle weakness and impaired neuromuscular transmission...

Congenital myasthenic syndrome 4 is a neuromuscular condition characterized primarily by issues at the junction between nerves and muscles, leading to...

Congenital myasthenic syndrome 4A is a neuromuscular disorder that results from defects at the postsynaptic neuromuscular junction. It is caused by pa...

Congenital myasthenic syndrome 4B is a neuromuscular disorder that affects the transmission of signals at the neuromuscular junction, leading to early...

Congenital myasthenic syndrome 4C is a neuromuscular disorder characterized by early-onset muscle weakness caused by defects at the postsynaptic neuro...

Congenital myasthenic syndrome 5 is a disorder of neuromuscular transmission that typically presents in infancy with symptoms such as fatigable weakne...

Congenital myasthenic syndrome 6 is a neuromuscular disorder that affects the connection between nerves and muscles. It is caused by mutations in the...