Dystrophy Case Study

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ABSTRACT Myotonic dystrophy (dystrophia myotonica) is a chronic, slowly progressive, highly variable inhe-rited multisystemic disease. It is characterized by muscle wasting, cataracts, heart condition, endo-crine changes and myotonia. Due to facial and oropharyngeal involvement, the muscles are wea-kened which leads to dysarthria and dysphagia. The present case study is aimed at discussing a pa-tient diagnosed with myotonic muscular dystrophy with respect to its detailed speech and swallow-ing profile. Typical characteristics with respect to speech and swallowing skills are described in in the case report. Myotonic muscular dystrophy (also known as dystrophic myotonia) is a progressive disease which leads to weakness in the muscles. It is characterised by myotonia (slowing down of relaxation of the muscles) and weakness. Myotonia can be seen in facial, neck and jaw muscles in advanced stages. Speech and swallowing being fine motor skills, gets affected in these cases. Oromotor functions are compromised due to myotonia (delay in relaxation of the muscles). This affects the basic functions like mastication, blowing, sucking and swallowing. As speech production is a…show more content…
Dysarthria affects the communication skills of an individual thereby, isolating him from the social circle and also making communication for daily needs a difficult and frustrating experience for the patient as well as caregivers. Dysphagia can have serious effects on the nutrition and airway maintenance for these patients, thereby, exaggerating the condition. Speech language pathologists play an important role in intervention of speech intelligibility and swallowing function in individuals with a neurogenic cause. Hence, it is important that detailed profiling of patient symptoms be known by an speech language pathologist to guide them in planning timely and effective therapy for such
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