Myoclonus, ataxia, and hypoventilation

Feit, Howard; Kirkpatrick, Joel B.; Woert, Melvin H. Van; Pandian, Geetha

doi:10.1212/wnl.33.1.109

Cited by 28 publications

(10 citation statements)

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“…MERRF is characterized by progressive myoclonic epilepsy, a mitochondrial myopathy with ragged-red fibers, and a slowly progressive dementia (Wallace et al, 1988b;Rosing et al, 1985;Fitzsimons et al, 1981;Berkovic et al, 1987a-c;Byrne et al, 1985;Fukuhara et al, 1980;Morgan-Hughes et al, 1982;Ogasahara and Engel, 1988;Holliday et al, 1983;Feit et al, 1983;Lombes et al, 1989). Hearing loss and ataxia are common findings (Wallace et al, 1988b;Rosing et al, 1985;Fitzsimons et al, 1981;Berkovic et al, 1987a-c;Morgan-Hughes et al, 1982;Holliday et al, 1983).…”

Section: Myoclonic Epilepsy and Ragged-red Fiber Disease (Merrf)mentioning

confidence: 99%

“…Hearing loss and ataxia are common findings (Wallace et al, 1988b;Rosing et al, 1985;Fitzsimons et al, 1981;Berkovic et al, 1987a-c;Morgan-Hughes et al, 1982;Holliday et al, 1983). However, in some cases hearing is normal (Fukuhara et al, 1980;Feit et al, 1983;Byrne et al, 1985). Onset ranges from late childhood and adolescence (Rosing et al, 1985;Wallace et al, 1988b;Fukuhara et al, 1980;Holliday et al, 1983;Feit et al, 1983; to adulthood (Holliday et al, 1983;Morgan-Hughes et al, 1982;Byrne et al, 1985;Fitzsimons et al, 1981).…”

Section: Myoclonic Epilepsy and Ragged-red Fiber Disease (Merrf)mentioning

confidence: 99%

“…However, in some cases hearing is normal (Fukuhara et al, 1980;Feit et al, 1983;Byrne et al, 1985). Onset ranges from late childhood and adolescence (Rosing et al, 1985;Wallace et al, 1988b;Fukuhara et al, 1980;Holliday et al, 1983;Feit et al, 1983; to adulthood (Holliday et al, 1983;Morgan-Hughes et al, 1982;Byrne et al, 1985;Fitzsimons et al, 1981). The absence of strokelike episodes appears to differentiate MERRF from MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) (Pavlakis et al, 1984).…”

Section: Myoclonic Epilepsy and Ragged-red Fiber Disease (Merrf)mentioning

confidence: 99%

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Oxidative Phosphorylation Diseases

Shoffner

Wallace

1990

Advances in Human Genetics

246

157

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Section: Myoclonic Epilepsy and Ragged-red Fiber Disease (Merrf)mentioning

confidence: 99%

Section: Myoclonic Epilepsy and Ragged-red Fiber Disease (Merrf)mentioning

confidence: 99%

Section: Myoclonic Epilepsy and Ragged-red Fiber Disease (Merrf)mentioning

confidence: 99%

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Oxidative Phosphorylation Diseases

Shoffner

Wallace

1990

Advances in Human Genetics

246

157

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“…Respiratory distress in mitochondrial encephalomyop athy has been reported by several authors [2,3,7], The respiratory distress in this patient was diagnosed as alveolar hypoventilation syndrome with sleep apnea by the following findings [6]: arterial blood hypercapnia and hypoxia at rest; diminished ventilatory response to CO2 breathing; almost normal ventilatory capacity; the absence of any other demonstrable cause for hypoventi lation, and apneic episodes during sleep as evidenced polysomnography. In alveolar hypoventilation syn drome with sleep apnea [1], fatal hypoventilation may occur during sleep as noticed in this case.…”

Section: Discussionmentioning

confidence: 91%

Mitochondrial Encephalomyopathy with Sleep Apnea

et al. 1988

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A rare case with mitochondrial encephalomyopathy, in association with cerebellar ataxia, peripheral neuropathy, mental retardation and alveolar hypoventilation syndrome with sleep apnea, as demonstrated by polysomnography, was encountered. This combination has not been described previously. From a prognostic point of view, alveolar hypoventilation syndrome with sleep apnea is an important clinical feature in this disease entity. Neither ataxia nor the abnormality of pyruvate metabolism was alleviated after 6 months of therapy with coenzyme Q₁₀.

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“…It is important to mention that mitochondrial disorders also affect respiratory function via central mechanisms [40][41][42][43], that may be frequently symptomatic, or mimic the clinical presentation of respiratory muscle weakness (i.e. nocturnal symptoms of obstructive sleep apnoea [44,45]).…”

Section: Metabolic Myopathiesmentioning

confidence: 99%

Diagnosis of muscle diseases presenting with early respiratory failure

et al. 2014

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Here we describe a clinical approach and differential diagnosis for chronic muscle diseases which include early respiratory failure as a prominent feature in their presentation (i.e. respiratory failure whilst still ambulant). These patients typically present to neurology or respiratory medicine out-patient clinics and a distinct differential diagnosis of neuromuscular aetiologies should be considered. Amyotrophic lateral sclerosis and myasthenia gravis are the important non-muscle diseases to consider, but once these have been excluded there remains a challenging differential diagnosis of muscle conditions, which will be the focus of this review. The key points in the diagnosis of these disorders are being aware of relevant symptoms, which are initially caused by nocturnal hypoventilation or diaphragmatic weakness; and identifying other features which direct further investigation. Important muscle diseases to identify, because their diagnosis has disease-specific management implications, include adult-onset Pompe disease, inflammatory myopathy, and sporadic adult-onset nemaline myopathy. Cases which are due to metabolic myopathy or muscular dystrophy are important to diagnose because of their implications for genetic counselling. Myopathy from sarcoidosis and colchicine each has a single reported case with this presentation, but should be considered because they are treatable. Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include oculopharyngodistal muscular dystrophy that awaits genetic characterisation.

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Myoclonus, ataxia, and hypoventilation

Cited by 28 publications

References 0 publications

Oxidative Phosphorylation Diseases

Oxidative Phosphorylation Diseases

Mitochondrial Encephalomyopathy with Sleep Apnea

Diagnosis of muscle diseases presenting with early respiratory failure

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