Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
Child; Female; Humans; Male; Adult; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Preschool; Q3 Literature Search; retrospective studies; Age of Onset; Electromyography; Glycogen Storage Disease Type II/diagnosis/physiopathology; Limb-Girdle; Muscle Weakness; Muscular Dystrophies; Respiration Disorders/etiology
To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during 1985 and 2006 are described in detail. The mean delay from onset of symptoms or first medical consultation until diagnosis was 10.4 and 7.1 years, respectively. A different diagnosis was suggested in 11 of 38 patients. Ten patients underwent repeated muscle biopsies before diagnosis of Pompe disease was established. Limb girdle weakness was the most frequent presenting sign. Six patients complained of myalgia. Wolf-Parkinson-White syndrome was found in 3 of 38 patients. Respiratory failure preceded the onset of overt limb muscle weakness in three patients. The course of the patients was progressive in all, but there was a wide variety of progression, which did not correlate with the age of disease onset. In 71% of the patients, neurophysiological investigations revealed a myopathic EMG pattern, half of the patients had spontaneous activity including complex repetitive discharges. A normal EMG was found in 9% of the patients. Nerve conduction studies were normal in all. Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease.
2007
Mueller-Felber W; Horvath R; Gempel K; Podskarbi T; Shin Y; Pongratz D; Walter MC; Baethmann M; Schlotter-Weigel B; Lochmuller H; Schoser B
Neuromuscular Disorders
2007
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/j.nmd.2007.06.002" target="_blank" rel="noreferrer">10.1016/j.nmd.2007.06.002</a>
Sleep disordered breathing in childhood-onset acid maltase deficiency
Male; Child; Humans; Adolescent; Female; Retrospective Studies; Polysomnography; Positive-Pressure Respiration; Respiratory Function Tests; Muscle Weakness; Blood Gas Analysis; Quality of Life; Respiration; Glycogen Storage Disease Type II/pp [Physiopathology]; Sleep Apnea Syndromes/pp [Physiopathology]; Sleep Apnea Syndromes/th [Therapy]; Muscle Strength; Respiration Disorders/pp [Physiopathology]; Respiration Disorders/th [Therapy]; Sleep/ph [Physiology]; breathing difficulties; glycogen storage disease type II; physical intervention; non-invasive positive pressure ventilation; sleep apnea
OBJECTIVES: To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD.;STUDY DESIGN: We retrospectively studied 4 patients with childhood-onset AMD by analyzing the results of neurological examinations for muscle wasting and muscle strength and the data on venous gas and from a pulmonary function test and nocturnal polysomnography (PSG).;RESULTS: Three out of the 4 patients showed muscular symptoms including myalgia, lordoscoliosis, muscle wasting and muscle weakness. They also complained of sleep-related symptoms such as tiredness in the morning and daytime sleepiness. All of them showed SDB by PSG, even in a patient in the earliest stage who exhibited no signs or symptoms of muscle weakness. In 3 patients, noninvasive intermittent positive pressure ventilation during sleep was introduced; and thereafter sleep-related symptoms were resolved and no lower respiratory infection reoccurred. Although their quality of life was improved, no improvement of respiratory function was shown by spirometry over a 2-year follow-up period.;CONCLUSIONS: SDB seems to be common in childhood-onset AMD, which is not always accompanied by daytime muscular symptoms, especially in mild patients. PSG should be utilized for detecting SDB, which could be one of the earliest signs of respiratory muscle involvement in childhood-onset AMD.
Nabatame S; Taniike M; Sakai N; Kato-Nishimura K; Mohri I; Kagitani-Shimono K; Okinaga T; Tachibana N; Ozono K
Brain and Development
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.braindev.2008.03.007" target="_blank" rel="noreferrer noopener">10.1016/j.braindev.2008.03.007</a>