Myopathy General
What kind of test has a high diagnostic value in most acquired muscle diseases?
Muscle Biopsy
Most common presenting symptom of NMJ disorder in neonates
Hypotonia
Age group of presentation of Becker Muscular Dystrophy
Adolescence/Adulthood
Dermatomyositis pathological finding
Perifascicular atrophy
Thymectomy is recommended for patients with generalized AChR-positive Myasthenia gravis up to age xx?
65
Which test has replaced muscle biopsy for diagnostic purposes for many inherited myopathies?
Genetic testing
In patients with MG, antibody-mediated autoimmune attack is ??xxxxx?? dependent and results from loss of self-tolerance in the thymus
T-cell
Gene affected in Myotonic Dystrophy DM1
CTG repeat at DMPK gene
This disorder is characterized by episodic muscle weakness triggered by changes in serum potassium
Periodic paralysis
Monoclonal antibody targeting complement C5 is FDA-approved for refractory generalized MG
Eculizumab (Soliris)
True or False?
Extraocular muscles are more frequently involved in patients with inherited myopathies
True
This electrophysiological technique is the most sensitive for detecting neuromuscular transmission failure, but has limited specificity
SFEMG- Single fiber electromyography
This dystrophy characteristically present with contractures at the elbows, ankles and neck
Emery Dreifuss
This neuromuscular disorder can present with both myopathic and neurogenic features on EMG, complicating the diagnosis
Inclusion body myositis
This complement inhibitor, approved in 2024, is indicated for AChR Ab-positive generalized MG
Ravulizumab (Ultomiris)
A muscular disease which known for fatal cardiac arrhythmias and sudden death
LMNA muscular dystrophy
Lambert-Eaton Syndrome EMG findings?
Decremental response on low frequency RNS and an incremental response on high-frequency RNS
Clinical phenomena that can differentiate myotonia congenita from paramyotonia congenita
Warm up phenomena
This clinical sign, seen in infants with SMA, is due to relative sparing of the diaphragm
Paradoxical inspiratory movement (bell shaped chest)
Novel therapy for Duchenne that targets increasing the baseline percentage of normal dystrophin protein
Exon skipping therapy
A novel noninvasive imaging system that can detect muscle degeneration
Multispectral optoacoustic tomography
Mediators of acetylcholine receptor clustering on the postsynaptic membrane
Muscle-specific kinase [MuSK]
and
Low-density lipoprotein receptor-related protein 4
Dystophy with prominent upper arm weakness with relative sparing of the deltoids.
FSHD (Fascioscapulohumeral muscular dystrophy)
Myopathy associated with malignant hyperthermia
Central core myopathy (RYR1)
This subcutaneous complement inhibitor was FDA-approved in 2025 for AChR Ab-positive generalized MG
Zilucoplan (Zilbrysq)