Presentation
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. [ncbi.nlm.nih.gov]
Le present article offre une analyse non lineaire du profil de parole d'un enfant de huit ans, qui montre les interactions entre la structure d'un mot et ses segments a mesure que la complexite du mot augmente. [go.gale.com]
Entire Body System
- Sepsis
Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. [ncbi.nlm.nih.gov]
- Fatigue
[…] the musculoskeletal system Gowers sign Skeletal myopathy Abnormality of the nervous system Gait disturbance Global developmental delay Motor delay Abnormality of the respiratory system Recurrent bronchitis Constitutional symptom Exercise intolerance Fatigue [ncbi.nlm.nih.gov]
Cardiovascular
- Heart Failure
Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. [ncbi.nlm.nih.gov]
Skin
- Ulcer
Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. [ncbi.nlm.nih.gov]
Treatment
Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review. Acta Neurol Belg. 2019;119(4):523-33. DOI: 10.1007/s13760-019-01199-z [ Links ] 39. [scielo.org.pe]
[…] of Manifestations Treatment is supportive. [ncbi.nlm.nih.gov]
Etiology
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet. 2018; 56(1-2):7-21. DOI: 10.1007/s10528-017-9825-6 [ Links ] 51. Blackburn PR, Gass JM, Vairo FP e, Farnham KM, Atwal HK, Macklin S, et al. [scielo.org.pe]
Pathophysiology
Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471-86. DOI: 10.1146/annurev-med-122313-085916 [ Links ] 64. Hagin D, Burroughs L, Torgerson TR. [scielo.org.pe]
Prevention
The question of whether initiation of CoQ10 supplements early in the course of disease would prevent some neurologic damage remains to be answered. [ncbi.nlm.nih.gov]