Following speech assessment, the otolaryngologist conducts a flexible transnasal laryngoscopy to view the vocal folds and activity of the muscles controlling them in order to eliminate other possible causes of the voice disorder. In spasmodic dysphonia, producing long vowels or speaking sentences results in muscle spasms which are not observed during other vocal activities such as coughing, breathing, or whispering. To evaluate the individual for any other neurological problems, this examination is followed up with an assessment by the neurologist. Voice quality symbol
The voice quality symbol for spasmodic dysphonia is ꟿ. Differential diagnosis
Because spasmodic dysphonia shares many characteristics with other voice disorders, misdiagnosis frequently occurs. A common misdiagnosis is muscle tension dysphonia, a functional voice disorder which results from use of the voice, rather than a structural abnormality. Some parameters can help guide the clinician towards a decision. In muscle tension dysphonia, the vocal folds are typically hyperadducted in constant way, not in a spasmodic way. Additionally, the voice difficulties found in spasmodic dysphonia can be task specific, as opposed to those found in muscle tension dysphonia. Being able to differentiate between muscle tension dysphonia and spasmodic dysphonia is important because muscle tension dysphonia typically responds well to behavioural voice treatment but spasmodic dysphonia does not. This is crucial to avoid providing inappropriate treatment, but in some cases a trial of behavioural voice treatment can also be helpful to establish a differential diagnosis.Spasmodic dysphonia can also be misdiagnosed as voice tremor.
Myotubular myopathy only affects muscles and does not impact intelligence in any shape or form.X-linked myotubular myopathy was traditionally a fatal condition of infancy, with life expectancy of usually less than two years. There appears to be substantial variability in the clinical severity for different genetic abnormalities at that same MTM1 gene. Further, published cases show significant differences in clinical severity among relatives with the same genetic abnormality at the MTM1 gene. Most truncating mutations of MTM1 cause a severe and early lethal phenotype, while some missense mutations are associated with milder forms and prolonged survival (up to 54 years).Centronuclear myopathies typically have a milder presentation and a better prognosis. Autosomal dominant CNM tends to have a less severe phenotype than the autosomal recessive version. Recently, researchers discovered mutations at the gene dynamin 2 (DNM2 on chromosome 19, at site 19p13.2), responsible for the autosomal dominant form of centronuclear myopathy. This condition is now known as dynamin 2 centronuclear myopathy (abbreviated DNM2-CNM). Research has indicated that patients with DNM2-CNM have a slowly progressive muscular weakness usually beginning in adolescence or early adulthood, with an age range of 12 to 74 years. Genetic
The genetic abnormality associated with the X-linked form of myotubular myopathy (XLMTM) was first localized in 1990 to the X chromosome at site Xq28. MTM1 codes for the myotubularin protein, a highly conserved lipid phosphatase involved in cellular transport, trafficking and signalling.