Which one of the following hereditary neuropathies is characterized by elevated serum 'phytanic acid' levels and manifests with the tetrad of peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia and elevated protein concentration in cerebrospinal fluid?
Refsum's disease
Refsum's disease is caused by a defect in phytanoyl-CoA hydroxylase leading to accumulation of phytanic acid, and classically presents with the tetrad of peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia, and elevated CSF protein without pleocytosis.
Similar Questions
Which one of the following is true regarding asymmetrical motor diabetic neuropathy?
Which of the following are the clinical features of multiple sclerosis?
1. Loss or blurring of vision
2. Tingling in limbs on neck flexion
3. Generalized tonic-clonic seizures
4. Gait ataxia
Select the correct answer using the code given below:
Consider the following pairs with respect to muscle channelopathies:
Channel Muscle disease 1. Sodium
2. Calcium
3. Ryanodine receptor
4. ChlorideParamyotonia congenita
Malignant hyperthermia
Becker disease
Thomsen diseaseWhich of the pairs given above are correctly matched?
Which one of the following refers to agraphesthesia?
Consider the following statements regarding Complex Regional Pain Syndrome (CRPS):
1. Type 1 CRPS may be precipitated by a traumatic event such as a fracture.
2. Type 1 CRPS is associated with peripheral nerve damage.
3. Type 2 CRPS is associated with peripheral nerve damage.
4. Budapest criteria are used for diagnosis of CRPS.
Which of the statements given above are correct?
Important Questions from Neuropathies
- Characteristic features of Horner's Syndrome are:
- All of the following statements are true EXCEPT:
- The following conditions usually present with proximal muscle weakness, EXCEPT:
- The most specific test that establishes the diagnosis of Myasthenia gravis is:
A 30-year old male was being evaluated for paraparesis. On examination, there was severe muscle atrophy, with absent deep tendon reflexes and absent Babinski sign. The most likely possibility is:
