Muscular Dystrophies and Other Muscle Diseases

Question 1

How do most myopathies present ?

Answer 1

They present with proximal, symmetric limb weakness with preserved reflexes and sensation. However, asymmetric and predominantly distal weakness can be seen in some myopathies.

Question 2

What is a pathognomonic pattern characteristic of inclusion body myositis ?

Answer 2

Atrophy and weakness of the flexor forearm (e.g. wrist and finger flexors) and quadriceps msucles that is often asymmetric.

Question 3

A paradoxical phenomenon that presents in patients with paramyotonia congenita ?

Answer 3

The myotonia worsens with repetitive activity.

Question 4

Clinical expression of Myotonic Dystrophy Type 1 ?

Answer 4

Hatchet -faced appearance due to temporalis, masseter, and facial muscle atrophy and weakness, frontal baldness, dysarthria and dysphagia, ECG abnormalities such as first-degree heart block, intellectual impairment, hypersomnia, posterior subcapsular cataracts, gonadal atrophy, insulin resistance, decreased esophageal and colonic motility.