DISEASES
description
Neuromyotonia (NMT), is also called Isaacs’ syndrome, Isaac’s-Merten’s syndrome, Continuous muscle fiber activity syndrome, Quantal squander syndrome, Acquired neuromyotonia, Isaac syndrome, Isaac-Mertens syndrome or Peripheral nerve hyperexcitability. It is a rare neuromuscular disorder that is characterized by progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), and diminished reflexes. Signs and symptoms generally develop between ages 15 and 60, with most people experiencing symptoms before age 40. Although the exact underlying cause is unknown, there appear to be hereditary and acquired (non-inherited) forms of the condition. Treatment is based on the signs and symptoms present in each person. An autoimmune disease may be present, and detection of certain antibodies can help with diagnosis.
Symptoms
- Progressive stiffness, cramping and weakness
- Muscle twitching with a rippling appearance (myokymia)
- Delayed muscle relaxation
- Diminished reflexes
- Muscle atrophy
- Ataxia (difficulty coordinating voluntary movements)
- Increased sweating
Relevant Dx Tests
Related Dx Tests
- Autoimmune Myopathy / Myositis Panel PLUS
- Anti‐GAD 65 (Glutamate Decarboxylase)
- Ganglioside Autoantibody Panel
- Anti‐DPPX (dipeptidyl aminopeptidase‐like 6)
- Anti‐GABAB Receptor
- Anti‐AMPA Receptor
- Neuromyelitis Optica Spectrum Disorder (NMOSD)
- Anti‐Myelin Associated Glycoproteins (MAG)
- Neurofilament Heavy Chain