No abstract

We studied six patients affected with blepharospasm (BSP). We injected botulinum toxin (BTX) around only one eye and saline solution around the other. Clinical rating of BSP was performed. Single fiber electromyography (SFEMG), compound motor action potential (cMAP) at the orbicularis oculi muscle by stimulation of the facial nerve, blink reflex, and blink reflex recovery curve were recorded. All clinical and electrophysiological investigations were carried out before, and 1, 2, and 4 weeks after treatment. Evidence of bilateral clinical benefit was provided. Following therapy, facial cMAP decreased bilaterally and SFEMG revealed statistically significant changes on both sides while the excitability curve of blink reflex remained unmodified. The results confirm that BTX affects merely the neuromuscular junctions. The clinical and neurophysiological effects are present on both sides also for unilateral injection probably because of toxin spreading.

No abstract

No abstract

No abstract

The most common form of autosomal recessive (AR) hereditary inclusion-body myopathy (HIBM), originally described in

Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases may also affect newborns with variable symptoms. More recently, severe neonatal episodic laryngospasm (SNEL) has been described in a small number of patients. A timely diagnosis of SNEL is crucial because a specific treatment is now available that will likely reduced laryngospasm and improve vital and cerebral outcomes. We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens starting at age 3 years. Results of molecular analysis revealed a de novo SCN4A G1306E mutation. The girl was treated with carbamazepine, acetazolamide, and mexiletine, with little improvement; after switching her treatment to flecainide, she experienced a dramatic reduction in muscle stiffness and myotonic symptoms as well as an improvement in behavior.

Cystic fibrosis patients present ocular surface abnormalities and lens transparency modifications and their severity is related to the digestive insufficiency. Simple, rapid and non-invasive tear tests and cytological procedures might be used as additional tests for assessing the severity of cystic fibrosis.