ABSTRACT
Myotonic dystrophies (DM) are genetic neuromuscular diseases that have autosomal dominant inheritance and are characterized by progressive muscular weakness. Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK (myotonic dystrophy protein kinase) gene on chromosome 19q13.3. Endocrine disorders associated with DM1 include primary hypogonadism with testicular atrophy and insulin resistance. However, DM1 accompanying hypogonodotropic hypogonadism has not previously been reported in Korea. A 56-year-old man who suffered from progressive weakness and walking disturbance for many years was hospitalized due to pneumonia. During his treatment for pneumonia, he received oral hypoglycemic agents because of hyperglycemia. He was diagnosed with DM1, based on the results of an EMG and genetic analyses. He also displayed anosmia and gynecomastia and was diagnosed with hypogonodotropic hypogonadism, based on the results of hormone tests.
Subject(s)
Humans , Male , Middle Aged , Atrophy , Gynecomastia , Hyperglycemia , Hypoglycemic Agents , Hypogonadism , Insulin Resistance , Korea , Muscle Weakness , Myotonic Dystrophy , Neuromuscular Diseases , Olfaction Disorders , Pneumonia , Walking , WillsABSTRACT
Occipitocervical posterior fusion itself is an uncommon cause of severe dysphagia. But occipitocervical malalignment after posterior fusion can be a cause of severe dysphagia. A 46-year-old man was referred to the department of rehabilitation medicine because of swallowing difficulty. He complained of severe dysphagia immediately after the occipitocervical posterior fusion. From the lateral view of video-fluoroscopic swallowing study (VFSS), we could conclude that the mechanical cricopharyngeal relaxation failure was a direct cause of his dysphagia and this was due to malalignment of the occipitocervical fixation. His occipitoaxial angle was fixed in hyperflexed position and this lead to the severe dysphagia and even dyspnea. After the revision operation, his dysphagia and dyspnea symptom was dramatically resolved. The occipitoaxial angle can be a useful index, which measure the anatomic relation of the occiput and the cervical vertebrae on sagittal plane, on evaluation of the swallowing function in the patient who had occipitocervical posterior fusion.