Consider the following pairs with respect to muscle channelopathies: Which of the pairs given above are correctly matched?Channel Muscle disease 1. Sodium
2. Calcium
3. Ryanodine receptor
4. ChlorideParamyotonia congenita
Malignant hyperthermia
Becker disease
Thomsen disease
1, 2 and 4 only
Sodium channel mutations cause paramyotonia congenita; calcium (RYR1-mediated) channel dysfunction is linked to malignant hyperthermia; and chloride channel (CLCN1) mutations cause Thomsen disease (myotonia congenita) — pairs 1, 2 and 4 are correct. Becker disease is a dystrophinopathy (muscular dystrophy) unrelated to the ryanodine receptor, making pair 3 incorrect.
Important Questions from Neuropathies
Consider the following clinical features :
1. Hypomimia
2. Dysphonia
3. Festination gait
4. Cogwheel rigidity
Which of the features given above are generally present in Parkinsonism?
- Circuits between the basal ganglia and the motor cortex constitute the extra pyramidal system which controls muscle tone, body posture and the initiation of movement. Lesions of the extra pyramidal system present clinically with :
Consider the following statements regarding Transient Global Amnesia (TGA):
1. TGA mainly affects middle aged persons who present with abrupt, discrete loss of anterograde memory lasting for few hours.
2. During the episode, the patients are unable to record new memories resulting in repetitive questioning.
3. Consciousness is impaired during the episode and the patient is unable to perform even simple motor functions.
4. After 4-6 hours, memory function and behaviour return to normal but the patient has complete and persistent amnesia for the duration of the episode.
Which of the statements given above are correct?
- Which of the following correctly describes the primary position of the right eye in right 3rd cranial nerve palsy?
- Which one of the following distinguishes axonal degeneration from segmental demyelination on electrophysiological studies?
