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MUSCULAR DYSTROPHIES Many, indeed most, neuromuscular disorders have a Mendelian basis. Partly for this reason, and partly because of the severe chronic disability produced by many of them, they represent a major category of genetic counselling requests and referrals. The muscular dystrophies, a large group of progressive, primary muscle disorders, form a particularly important problem, […]

It is possible for a pregnancy test to show a negative result one day and a positive result the next day. There are several factors that can cause this change, such as the timing of the test in relation to ovulation and implantation, the concentration of the hormone hCG in the urine, and the sensitivity of the pregnancy test. It is important to follow the instructions of the pregnancy test and, if in doubt, consult with a healthcare professional for further guidance.

WHAT IS VESTIBULAR HYPOFUNCTION? Vestibular hypofunction is a vestibular disorder that affects the balance of an individual. The Academy of Neurologic Physical Therapy website mentions, “Unilateral vestibular hypofunction (UVH) is used when the balance system in your inner ear, the peripheral vestibular system, is not working properly. Each inner ear has a vestibular system, so […]

Autosomal Dominant Inheritance: Although, in theory, autosomal dominant inheritance is the simplest model for genetic counselling, in practice it provides some of the most difficult problems, with traps for the unwary that require special mention. An autosomal dominant disorder or trait can be defined either by the observed pattern of transmission between generations in families […]