myotonia

The characteristics of the syndrome include generalized myotonia, skeletal abnormalities with joint contractures, and facial dismorphism.2 Typical clinical signs of SJS in the maxillofacial region include narrow palpebral fissures, blepharospasms, hypertelorism, low-set ears, mandibular micro/ retrognathia, and narrow and high arched palate.3

Gellei, "Myotonia dystrophica with heart involvement: an electron microscopic study of skeletal, cardiac, and smooth muscle," Journal ofClinical Pathology, vol.

The myotonia is related to an abnormal state of excitability in the muscle fiber membrane [9].

Clinical manifestations of Parkinson's disease are mainly for static tremor, bradykinesia, myotonia, and freezing of gait.

In three patients with congenital myotonia, EMG cricopharyngeal muscle was normal, both at rest and during swallowing.

Congenital myotonia is a genetic channelopathy that affects skeletal muscles.

Although the patient did not have significantly increased body temperature and myotonia, there were several studies mentioned that early symptoms of malignant syndrome could be not typical [4].

OUR AUCKLAND University of Technology (AUT) research team is embarking on a national study to find out how many people are affected by genetic muscle disorders, including the muscular dystrophies, congenital myopathy, myotonia congenital, paramyotonia congenita, central core disease, Pompe disease, nemaline, myotubular and GNE myopathies, and periodic paralysis.

For example, Michael was mindful about taking objects from his wife because her myotonia made it difficult for her to release her grip:

This is characterised by myotonia and additional findings of a family history, cataracts, cognitive impairment and impaired glucose tolerance.

It is a debilitating rare genetic neuromuscular disease that is characterised by progressive muscle atrophy painful muscle spasms, cataracts, heart conduction defects, endocrine abnormalities and myotonia. DM1 affects approximately 150,000 patients in the US, Europe and Japan and currently there are no disease-modifying therapies.

Richesson et al., "An interactive voice response diary for patients with non-dystrophic myotonia,' Muscle and Nerve, vol.

It is an autosomal dominant disorder characterized by myotonia, progressive muscle weakness and wasting, cataracts, hypogonadism, frontal balding, cardiac conduction defects, and cerebral involvement [1, 2].