Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease

Finsterer, Josef; Wanschitz, Julia; Quasthoff, Stefan; Iglseder, Stephan; Löscher, Wolfgang N.; Grisold, Wolfgang

doi:10.1111/ane.12758

Cited by 10 publications

(6 citation statements)

References 95 publications

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“…Patients with LOPD present with proximal limb weakness resulting in gait disturbance with a positive Trendelenburg and Gower's sign, scapula alata, wasting of the paraspinal muscles, myalgias, and falls. Involvement of the respiratory muscles may be associated with sleep-disordered breathing together with hypoventilation, dyspnoea, and obstructive sleep apnea syndrome (OSAS) [71]. Progressive dysfunction of the voice apparatus in LOPD has been reported in one study [71].…”

Section: Lopdmentioning

confidence: 99%

“…EOPD is clinically characterized by failure to thrive, dysphagia, myopathy, and severe hypertrophic cardiomyopathy leading to heart failure [71]. If untreated, EOPD has a poor outcome with death before one year of age [71]. Hypotonia and cardiomyopathy often lead to a dry blood spot (DBS) test, and if positive, to GAA sequencing.…”

Section: Eopdmentioning

confidence: 99%

“…LOPD is characterized by progressive muscle weakness of the proximal limb, axial, and respiratory muscles [71]. Patients with LOPD present with proximal limb weakness resulting in gait disturbance with a positive Trendelenburg and Gower's sign, scapula alata, wasting of the paraspinal muscles, myalgias, and falls.…”

Section: Lopdmentioning

confidence: 99%

“…Involvement of the respiratory muscles may be associated with sleep-disordered breathing together with hypoventilation, dyspnoea, and obstructive sleep apnea syndrome (OSAS) [71]. Progressive dysfunction of the voice apparatus in LOPD has been reported in one study [71]. Severe cardiomyopathy can occasionally be the initial manifestation of LOPD [71].…”

Section: Lopdmentioning

confidence: 99%

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Update Review about Metabolic Myopathies

Finsterer

2020

Life

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The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Metabolic myopathies present with either permanent (fixed) or episodic abnormalities, such as weakness, wasting, exercise-intolerance, myalgia, or an increase of muscle breakdown products (creatine-kinase, myoglobin) during exercise. Though limb and respiratory muscles are most frequently affected, facial, extra-ocular, and axial muscles may be occasionally also involved. Age at onset and prognosis vary considerably. There are multiple disease mechanisms and the pathophysiology is complex. Genes most recently related to metabolic myopathy include PGM1, GYG1, RBCK1, VMA21, MTO1, KARS, and ISCA2. The number of metabolic myopathies is steadily increasing. There is limited evidence from the literature that could guide diagnosis and treatment of metabolic myopathies. Treatment is limited to mainly non-invasive or invasive symptomatic measures. In conclusion, the field of metabolic myopathies is evolving with the more widespread availability and application of next generation sequencing technologies worldwide. This will broaden the knowledge about pathophysiology and putative therapeutic strategies for this group of neuromuscular disorders.

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Section: Lopdmentioning

confidence: 99%

Section: Eopdmentioning

confidence: 99%

Section: Lopdmentioning

confidence: 99%

Section: Lopdmentioning

confidence: 99%

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Update Review about Metabolic Myopathies

Finsterer

2020

Life

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“…Полинейропатия при БП развивается в результате отложения гликогена в аксонах и шванновских клетках миелинизированных и немиелинизированных волокон [48][49][50]. Большой интерес представляют данные о нейропатии тонких волокон, подтвержденной у 22 из 44 пациентов с БППН [51].…”

Section: лекции и обзорыunclassified

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Никитин¹

2020

Neuromuscular Diseases

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Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life. The late onset Pompe disease is characterized by hyper creatine kinase level, limb-girdle and axial muscle weakness, usually complicated by respiratory muscles degeneration. Diagnostic delay is still common in most countries, and physician should be wary to of delaying the correct diagnosis. Difficulties in diagnosing late onset Pompe disease are associated with broad and continuous clinical spectrum of nonspecific signs and symptoms often not distinguishable from those in other neuromuscular disorders. The main muscular manifestations and clinical tests of late onset Pompe disease are considered, and extra-muscular changes are discussed that allow one to suspect type II glycogenosis.

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