Question

frontal balding, gonadal atrophy, cataracts, and pt finding it hard to release grip of door handle or handshake and a muscle biopsy showing atrophy of mostly type 1 fibers implies what disease?

Answer 1

The symptoms and muscle biopsy results are indicative of Myotonic Dystrophy, a genetic disorder characterized by progressive muscle weakness, myotonia, and multi-systemic symptoms including frontal balding, gonadal atrophy, and cataracts.

Step-by-step explanation:

The symptoms described: frontal balding, gonadal atrophy, cataracts, difficulty releasing grip (known as myotonia), and muscle biopsy showing atrophy of mostly type 1 fibers are indicative of a condition known as Myotonic Dystrophy. Myotonic dystrophy is a type of muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and loss of muscle tissue.

In addition to the muscular symptoms, myotonic dystrophy is a multi-systemic disorder and can affect several other organs leading to symptoms such as those described (frontal balding, gonadal atrophy, cataracts). The difficulty in relaxing muscles after a contraction (myotonia) is a distinctive feature of this condition. With respect to the muscle biopsy, myotonic dystrophy usually affects type 1 muscle fibers, which are those primarily used for endurance and are slow-twitch in nature.