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Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.

We investigated the diagnostic value of electromyographic (EMG) examination of the anterior abdominal wall muscles (AWMS) in thoracic radiculopathy and compared it with examination of thoracic paraspinal muscles (TPSM). Technically, examination of AWMS was much easier compared to TPSM. In eight patients with thoracic diabetic radiculopathy at the level of T7-T12, AWMS was abnormal in all and was considered to be diagnostic, whereas AWMS was normal in diabetic lumbar radiculopathy, patients with diabetes mellitus without radiculopathy, patients with unspecified gastrointestinal pain, and patients with musculoskeletal-type back pain. We conclude that EMG evaluation for possible thoracic radiculopathy should include examination of AWMS, and if abnormal, would be of great diagnostic help in patients with unspecified gastrointestinal symptoms.

Forty-three patients with myotonic dystrophy (MyD) and 43 age- and sex-matched controls were prospectively evaluated for mitral valve prolapse (MVP) using both cardiac auscultation and echocardiography (ECHO). Prevalence of MVP was significantly increased in MyD patients when using either abnormal auscultation plus abnormal ECHO (23.3%, P less than 0.02) or abnormal ECHO alone (30%, P less than 0.01) as diagnostic criteria for MVP. Frequency of MVP was even more increased in patients with a thin, flat chest compared with patients with normal physical appearance (P less than 0.007). These findings are in support of the concept that the increased frequency of MVP in neuromuscular disorders is likely due to geometrical changes of the heart caused by thorax deformities, rather than structural changes of the mitral valve. For this reason, MVP in MyD probably belongs to the entity of so-called benign, secondary MVP. This is further supported by the absence of symptoms of "systemic" complications of MVP in our patient population.

A family with a hypertrophic form of peroneal muscular atrophy (PMA) was studied with typical clinical and electrophysiological abnormalities in the propositus and her child. The propositus' father was asymptomatic and slowing of nerve conduction velocities was limited to the peroneal nerves. Actual parentage was confirmed by 22 different serologic and electrophoretic marker systems.