What is a MuSK antibody test?

An anti-MuSK antibody test is used to help diagnose myasthenia gravis (MG) in people with signs and symptoms associated with MG but who test negative for AChR antibodies. Testing is used to distinguish MG from other conditions that may cause similar symptoms, such as chronic muscle fatigue and weakness.

What is specific for myasthenia gravis?

Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction synapse (NMJ) characterized by weakness that worsens with continued muscle work and improves with resting of the involved muscle(s).

What does muscle-specific kinase do?

Muscle-specific kinase (MuSK) is a single-pass transmembrane protein that has a critical role in signaling between motor neurons and skeletal muscle.

What disease mimics myasthenia gravis?

Beware: there are other diseases that mimic myasthenia gravis. A number of disorders may mimic MG, including generalized fatigue, amyotrophic lateral sclerosis (ALS), Lambert-Eaton myasthenic syndrome, botulism, penicillamine-induced myasthenia, and congenital myasthenic syndromes.

Can I drive with myasthenia gravis?

A common fear when first diagnosed with myasthenia is that you will never be able to drive again. This is not necessarily true, however anyone with myasthenia, who wishes to drive or holds a driving licence, is legally required to inform the Driver and Vehicle Licensing Agency (DVLA), even if their symptoms are mild.

What type of doctor can diagnose myasthenia gravis?

Neurologist or neuromuscular specialist Within the field of neurology, a neuromuscular specialist diagnoses and cares for diseases that affect the function of nerves and muscles. These doctors most often diagnose MG correctly, as well as treat and manage MG patients.

What is the function of MuSK?

MuSK is expressed in skeletal muscle cells, and once activated, MuSK stimulates pathways that (1) cluster and anchor acetylcholine receptors (AChRs) and additional muscle proteins that are critical for synaptic transmission, (2) enhance transcription of genes encoding synaptic proteins in muscle “synaptic nuclei,” and …

What causes MuSK?

The musk pod is normally obtained by killing the male deer through traps laid in the wild. Upon drying, the reddish-brown paste inside the musk pod turns into a black granular material called “musk grain”, which is then tinctured with alcohol.

Does MG show up on MRI?

CT or preferably magnetic resonance imaging (MRI) of the brain and orbit is indicated. It is helpful when the diagnosis of MG is not established and to rule out other causes of cranial nerve deficits. MRI can evaluate for intraorbital or intracranial lesions, basal meningeal pathology, or multiple sclerosis.

What does musk stand for in muscle specific kinase?

MuSK (for Muscle-Specific Kinase) is a receptor tyrosine kinase required for the formation and maintenance of the neuromuscular junction.

What kind of protein does MuSK protein encode?

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome.

What kind of proteoglycan is musk activated by?

It is activated by a nerve-derived proteoglycan called agrin . Upon activation by its ligand agrin, MuSK signals via the proteins called casein kinase 2 (CK2), Dok-7 and rapsyn, to induce “clustering” of acetylcholine receptors ( AChR ).

How does missense mutation affect musk catalytic kinase?

Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability. Testing of human myotubes for the presence and activation of MuSK by exposing them to laminin. Thus, an agrin/MuSK complex may form part of a motor neuron stop signal involved in “reverse signaling” to the motor neuron.