Tongue Fasciculations in the Newborn.
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ABSTRACT: Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with reduced fetal movements in utero, severe weakness at birth, and short survival time were assessed to attempt to determine whether their phenotype could be explained by their genotype. The diagnosis was confirmed by clinical, electrophysiological and histopathological features. Polymerase chain reaction assays were used to define the molecular diagnosis. A gene-dosage assay was used to assess the quantity of centromeric survival motor neuron gene (SMNc) present. In all cases the telomeric survival motor neuron gene (SMNt) was absent. The SMNc gene was present but in reduced copy number compared with a control group of children with less severe type I SMA, so may be important in determining severity. In the differential diagnosis of reduced fetal movements, SMA should be considered. The clinical classification may in future be clarified by molecular genetic findings.European Journal of Paediatric Neurology 02/1999; 3(2):65-72. · 1.98 Impact Factor
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ABSTRACT: The classical form of severe spinal muscular atrophy (SMA type 1; Werdnig-Hoffmann disease) has a very consistent clinical phenotype that is well recognized by paediatricians. It usually presents at birth or within the first few months of life. There is general hypotonia, with axial and limb weakness; the legs are affected more than the arms and proximal muscles more than distal, leaving residual spontaneous activity in the feet and in the forearms and hands. Facial muscles are spared so that the infant usually has a bright normal expression. The intercostal muscles are always affected, whereas the diaphragm is spared, allowing adequate spontaneous respiratory activity until the infants are precipitated into respiratory failure by an incidental respiratory infection, or aspiration. With rare exception they die by 2 years of age with a median around 7 months and with about 80% of the children dying by the time they are 1 year old. There is a consistent homozygous deletion in exons 7 and 8 of the telomeric copy of the survival motor neuron (SMN) gene. In the current issue of the journal, MacLeod and her colleagues have documented five cases of more severe spinal muscular atrophy, with a history of diminished fetal movements in utero and presenting at birth with asphyxia and severe weakness.European Journal of Paediatric Neurology 02/1999; 3(2):49-51. · 1.98 Impact Factor
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ABSTRACT: The presence of hand and electrocardiogram (ECG) tremor was studied in 31 children with severe, intermediate, or mild form of spinal muscular atrophy. Clinical tremor of the hands was seen in 16 (59%) of 27 patients, all with benign forms of the disease. Nineteen patients had ECG tremors, of whom 17 had the mild or intermediate form. With the exception of one, all patients in the mild or intermediate group had hand or ECG tremor. Hand and ECG tremor are valuable in the diagnosis of the benign forms of spinal muscular atrophy; they are of no value in diagnosis of the severe infantile type.Archives of Disease in Childhood 06/1983; 58(5):376-8. · 3.05 Impact Factor
Tongue Fasciculations in the Newborn
polyhydramnios was noted and the mother perceived
decreased fetal movements. The infant was delivered by
cesarean at term weighing 2.8 kg. Owing to absent breathing
efforts, she required ventilatory support immediately after
Physical examination revealed a ventilator-dependent, alert
infant with severe generalized weakness, profound hypoto-
nia, and absent neonatal and deep tendon reflexes. She re-
sponded to painful stimuli with weak grimaces and eye-
opening. A bell-shaped chest and tongue fasciculations
were evident (Video; available at www.jpeds.com). Chest
radiography showed thin and radiolucent ribs (Figure).
Molecular genetic analysis revealed homozygous deletion of
exons 7 and 8 of the telomeric survival motor neuron 1
gene and exon 5 of the neuronal apoptosis inhibitory
protein gene, confirming the diagnosis of spinal muscular
atrophy (SMA). On day 30 of life, the infant died after
mechanical ventilation was withdrawn at the request of her
Three types of SMA affect children during the first year of
life. The earlier the onset of SMA, the more severe the clinical
picture and the earlier the patient’s demise. In all types,
mentation is preserved, there is no sensory impairment,
and typical features of anterior horn cell disease, including
fasciculations, atrophy, hypotonia, and areflexia, are seen.1
Type 0, the most severe form, begins before birth2-4and
has a progressive course and early fatal outcome within the
first 3 months of life.4The first symptom of type 0 SMA is
reduced fetal movements, typically noted at 30-36 weeks
gestation. At birth, these newborns present with profound
diffuse weakness, early deficits of facial movement, and
respiratory failure necessitating ventilatory support. Chest
radiography is useful in revealing the chest deformity and
thin and radiolucent ribs as a result of intercostal muscle
weakness during intrauterine life.
Fasciculations and atrophy of the tongue, clinical signs of
anterior horn cell disorders of slightly later onset, are seen in
only approximately one-third to one-half of patients with
SMA, occurring at birth or during the first month of life.
They are most apparent at the periphery of the tongue at
rest, and in some cases, such as this infant, may have
a “bag of worms” appearance. Fasciculations of the tongue
also may occur in newborns with hypoxic-ischemic injury
and M€ obius syndrome. Another disorder that may affect
the nerve XII nucleus in early infancy is type II glycogen
female infant was the first child of unrelated parents
with an unremarkable family history. The pregnancy
was uneventful until the third trimester, when
storage disease (Pompe disease), but fasciculations and
weakness usually appear after the neonatal period, and
macroglossia is common.4The appearance of tongue fascic-
ulations in a floppy infant with symmetric proximal muscle
weakness is highly suggestive of SMA.5n
Ru? za Grizelj, MD, PhD
Jurica Vukovi? c, MD, PhD
Department of Pediatrics
University Hospital Center Zagreb
University of Zagreb Medical School
References available at www.jpeds.com
Figure. Chest and abdominal radiograph.
J Pediatr 2013;-:---.
0022-3476/$ - see front matter. Copyright ª 2013 Mosby Inc.
All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2013.05.030
1. Nigro MA. Spinal muscular atrophy. In: Maria BL, ed. Current manage-
ment in child neurology. 3rd ed. Hamilton, Canada: BC Decker; 2005. p.
2. MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. Prenatal-onset
spinal muscular atrophy. Eur J Paediatr Neurol 1999;3:65-72.
3. Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an ex-
panding clinical phenotype. Eur J Paediatr Neurol 1999;3:49-51.
4. Volpe JJ. Neuromuscular disorders: levels above the lower motor neuron
to the neuromuscular junction. In: Volpe JJ, ed. Neurology of the new-
born. 5th ed. Philadelphia: Saunders; 2008. p. 770-2.
5. Dawood AA, Moosa A. Hand and ECG tremor in spinal muscular atro-
phy. Arch Dis Child 1983;58:376-8.
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