A patient complains of a long history of generalized muscle weakness. On examination, his facial muscles show marked atrophy as shown and when you ask him to shake your hand , he is unable to relax the grip for quite some time. Ophthalmological examination reveals the following finding: ECG showed the following finding: Which of the following given condition is not seen to be associated in above clinical scenario?
Correct Answer: Malignancy
Description: Clinical signs and symptoms with Hatchet face Christmas tree cataract And first degree hea block is suggestive of clinical diagnosis as MYOTONIC DYSTROPHY. MYOTONIC DYSTROPHY There are two forms myotonic dystrophy type 1 (DM1) myotonic dystrophy type 2 (DM2) : proximal myotonic myopathy (PROMM). Clinical Features DM1: "hatchet-faced" appearance (temporalis, masseter, and facial muscle atrophy with weakness). Frontal baldness Weakness of wrist and fingers and footdrop. Dysahria and dysphagia ventilatory insufficiency. apparent by the age of 5 years ECG abnormalities include: first-degree hea block and more extensive Complete hea block and sudden death Congestive hea failure: cor pulmonale secondary to respiratory failure. Other associated features: intellectual impairment hypersomnia posterior subcapsular cataracts gonadal atrophy insulin resistance decreased esophageal and colonic motility. Congenital myotonic dystrophy : more severe form. It is characterized by severe facial and bulbar weakness transient neonatal respiratory insufficiency mental retardation. DM2 or PROMM involves proximal muscles. Other features overlap with DM1, including Cataracts testicular atrophy insulin resistance constipation hypersomnia cognitive defects. DIAGNOSIS clinical findings. EMG evidence of myotonia is observed DM1 > DM2. The major histopathological feature: numerous internalized nuclei is seen in muscle fibers with many atrophic fibers with pyknotic nuclear clumps Autosomal dominant disorders. TREATMENT Myotonic Dystrophy Mexiletine A cardiac pacemaker or implantable cardioveer defibrillator (significant arrhythmia). Molded ankle-foot ohoses (foot drop).
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