A boy has the onset of difficulty walking at 16 months. Reflexes are decreased. Over the course of several months, the patient becomes dysarthric and mental functioning decreases. Testing reveals that the patient has a deficiency of arylsulfatase A. Which of the following is the most likely diagnosis?

a. Sandhoff’s disease

b. Tay-Sachs disease

c. Gaucher’s disease

d. Metachromatic leukodystrophy

e. McArdle’s disease

the answer is below…

The United States Medical Licensing Examination, or USMLE for short, is a three-part licensing examination that is required in order to receive a license to practice medicine within the United States.

The USMLE assesses a physician’s ability to apply knowledge, concepts, and principles, and to determine fundamental patient-centered skills that are important in health and disease and that constitute the basis of safe and effective patient care.Examination committees composed of medical educators and clinicians from across the United States and its territories prepare the examination materials each year.

This exam is designed by the Federation of State Medical Boards and the National Board of Medical Examiners to determine whether or not an individual understands and can apply the knowledge necessary to practice medicine safely and intelligently.

The USMLE is actually comprised of three different exams that are referred to as steps, which examine the individual’s knowledge of specific topics related to the field of medicine such as basic science, medical knowledge, medical skills, clinical science, and the application of all of these skills and areas of knowledge in the medical field.

All three steps of the USMLE include a series of computerized multiple-choice questions, but the format of the exam and the information covered in each multiple-choice section is different for each step of the USMLE. The USMLE Step II also has a clinical skills portion that examines an individual’s ability to work with real patients and the USMLE Step III has a computerized patient simulation portion in addition to the multiple-choice section of the exam. In order for an individual to receive a license to practice medicine, the individual must pass all three steps of the USMLE.

Medical doctors with an M.D. degree are required to pass this examination before being permitted to practice medicine in the United States of America

The correct answer is d; Metachromatic leukodystrophy.[1]

Hexosaminidase deficiencies produce Sandhoff’s and Tay-Sachs diseases. Glucocerebrosidase is deficient in Gaucher’s disease. Phosphofructokinase deficiency is usually symptomatic as a disturbance of skeletal muscle function. The enzymatic defect in metachromatic leukodystrophy is transmitted in an autosomal recessive fashion. The affected person usually has retardation, ataxia, spasticity, and sensory disturbances, but individual elements of this disorder may appear alone in less serious cases. The disease is usually symptomatic during infancy.