nemaline myopathy 2

An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.

Also known as: NEB nemaline myopathy, NEM2, nemaline myopathy caused by mutation in NEB, nemaline myopathy type 2

Category: General

What is nemaline myopathy 2?

nemaline myopathy 2 is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have nemaline myopathy 2, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with nemaline myopathy 2

Bulbar palsyDysphagiaFoot dorsiflexor weaknessGeneralized muscle weaknessLimb muscle weaknessNeck flexor weaknessProximal muscle weaknessRespiratory insufficiency due to muscle weaknessWeakness of facial musculature

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.