ABSTRACT
Faecal incontinence is recognised as a feature of myotonic dystrophy along with other symptoms of bowel dysfunction, but its prevalence is poorly defined. We have surveyed 152 unselected myotonic dystrophy patients. We identified issues with bowel control in 104 (68% of the study population). Forty-eight (32%) reported faecal incontinence in the 4 weeks prior to completion of the questionnaire. Fifty-six patients (37%) reported having to change their lifestyle because of incontinence issues at some point in the prior 4 weeks. This study shows a high frequency of life-changing symptoms in a large unselected, cohort of patients with myotonic dystrophy type 1, and highlights lower gastrointestinal symptoms as an important issue for further research.
Subject(s)
Fecal Incontinence/epidemiology , Fecal Incontinence/etiology , Myotonic Dystrophy/complications , Adolescent , Adult , Cohort Studies , Fecal Incontinence/psychology , Female , Humans , Life Style , Male , Middle Aged , Myotonic Dystrophy/psychology , Prevalence , Surveys and Questionnaires , Young AdultABSTRACT
Myotonic dystrophy (MD) is the commonest adult muscular dystrophy and is associated with respiratory muscle weakness. The role of screening sleep studies is unclear in MD. We prospectively evaluated polysomnography/overnight oximetry in a group of MD patients and related this to the daytime respiratory function in an attempt to evaluate the usefulness of screening sleep studies. Twenty-five patients with type I MD [15 males; mean age (SD) 40.0 (10.9) years] who had at least one symptom suggestive of nocturnal hypoventilation were included in the study. We performed spirometry, maximal inspiratory and expiratory mouth pressures, sniff nasal inspiratory pressure, arterial blood gases and polysomnography or overnight oximetry. Excessive tiredness and sleepiness were the most common presenting symptoms. Prevalence of sleep related breathing disorder (SRBD) was 36%. FVC was found to be normal in 33% of subjects with significant SRBD. Mouth pressures were reduced more than FVC, even in patients with normal overnight oxygen saturation. Of all the daytime measures, FVC correlated best with arterial carbon dioxide tension (r = -0.7). Sleep studies were useful to identify a small group of myotonic dystrophy patients (12%, three out of 25 in our series) with SRBD that would have been missed with routine daytime assessments. Targeted sleep monitoring in patients who are older, with multiple symptoms suggestive of SRBD, especially if they are overweight seems to be the best way to utilize the existing resources. Home unattended oximetry was well tolerated and offers a practical screening tool in this challenging patient group where excess daytime sleepiness is often due to causes other than SRBD.
Subject(s)
Myotonic Dystrophy/complications , Sleep Wake Disorders/diagnosis , Adult , Carbon Dioxide/blood , Female , Humans , Male , Myotonic Dystrophy/physiopathology , Oximetry , Polysomnography , Sleep Apnea Syndromes/diagnosis , Sleep Apnea Syndromes/epidemiology , Sleep Apnea Syndromes/etiology , Sleep Stages , Sleep Wake Disorders/etiology , Sleep Wake Disorders/physiopathology , Vital CapacityABSTRACT
The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial (mt-) tRNA(His) gene. This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cytochrome c oxidase deficiency in single muscle fibers.
Subject(s)
DNA, Mitochondrial/genetics , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Mutation , RNA, Transfer, His/genetics , Adult , Biopsy , Brain Edema/etiology , DNA Mutational Analysis , Disease Progression , Electron Transport Complex IV/metabolism , Headache/etiology , Humans , Male , Mitochondrial Diseases/complications , Molecular Sequence Data , Muscle Fibers, Fast-Twitch/chemistry , Muscle Fibers, Fast-Twitch/metabolism , Muscle Fibers, Fast-Twitch/pathology , Muscle, Skeletal/enzymology , Muscle, Skeletal/pathology , Nucleic Acid Conformation , Optic Atrophy/etiology , Phenotype , Reye Syndrome/complications , Seizures/etiology , Sequence Homology, Nucleic AcidABSTRACT
OBJECTIVE: To report a family with Marfan's syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. METHODS: 21 family members underwent detailed clinical examination, including neurological and pulmonary assessment. Muscle biopsies in the most severely affected cases were immunostained using monoclonal antibodies to specific fibrillin components. Genomic DNA from all 21 members was analysed for mutations in the fibrillin gene, FBN1, on 15q21. RESULTS: 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. Their muscle biopsies revealed an abnormality in fibrillin immunoreactivity. CONCLUSIONS: Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan's syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy.
