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]
Tuberous Sclerosis Complex: A review of the past, present and future. Turk J Med Sci. 2020; 28. DOI: 10.3906/sag-2002-133 [ Links ] [scielo.org.pe]
Entire Body System
- Pathologist
Access through your library Copyright: COPYRIGHT 2014 Canadian Association of Speech-Language Pathologists & Audiologists Source Citation Gale Document Number: GALE|A387827430 [go.gale.com]
- Developmental Delay
delay Motor delay Abnormality of the respiratory system Recurrent bronchitis Constitutional symptom Exercise intolerance Fatigue Ear malformation Macrotia Growth abnormality Failure to thrive Growth delay IMPORTANT NOTE: NIH does not independently verify [ncbi.nlm.nih.gov]
Musculoskeletal
- Myopathy
The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. [ncbi.nlm.nih.gov]
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...] [myobase.org]
Workup
Serum
- Neutropenia
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]
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...] [myobase.org]
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]