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]

• 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]

• 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]

• Recurrent Infection

  infections in infancy and early childhood Abnormality of the integument Fair hair Abnormality of the musculoskeletal system Gowers sign Skeletal myopathy Abnormality of the nervous system Gait disturbance Global developmental delay Motor delay Abnormality [ncbi.nlm.nih.gov]

• 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]

• 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]

• 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]

• No Speech Development

  In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. [semanticscholar.org]

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]

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]

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]

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]