In contrast to the previously reported patients with biallelic NAXE variants, our patients showed a milder phenotype with disease onset in early adulthood with psychosis, cognitive impairment, seizures, cerebellar ataxia and spasticity.The symptoms fluctuated.
BoNT-A injection for lower limb spasticity led to high goal achievement rates in patient-centered GAS evaluation and functional and symptomatic improvements.
BoNT-A injection for lower limb spasticity led to high goal achievement rates in patient-centered GAS evaluation and functional and symptomatic improvements.
Thus, long lasting reduction of spasticity by a-tsDCS via downregulation of NKCC1 may constitute a novel therapy for spasticity following spinal cord injury.
Our results suggest that both larger titin isoforms and sarcomere lengths are positively correlated with increased severity of hip displacement and may represent adaptations in response to concomitant increases in spasticity and muscle shortening.
BoNT-A injection for lower limb spasticity led to high goal achievement rates in patient-centered GAS evaluation and functional and symptomatic improvements.
Physical examination, laboratory tests, and MRI showed that he had adult-onset AMN manifestations, including spasticity and hyperactive tendon reflexes with Hoffman and Babinski signs in the limbs, difficulty in performing the heel-to-shin test, hyperpigmentation, increased levels of adrenocorticotropic hormone and very long-chain fatty acids, decreased levels of corticosteroid and serum gesterol, and salient atrophy of the cervical and thoracic spinal cord.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene.
In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with spasticity and dystonia) spectrum.
Mutations in RAB18, a member of small G protein, cause Warburg micro syndrome (WARBM), whose clinical features include vision impairment, postnatal microcephaly, and lower limb spasticity.
Controllable factors included spasticity (HR=1.11;95%CI=1.04-1.20), incomplete healing before discharge (HR=5.42;95% CI=3.95-7.44), serum albumin level ≤3 g/dL (HR=1.27;95%CI=1.13-1.43), pressure ulcer stage 4 (HR=1.90;95%CI=1.41-2.54), non -muscle-based procedure (HR=3.82;95%CI=2.54-5.76), and length of hospitalization >21 days (HR=2.94;95%CI=1.60-5.40).
We showed recently (Bos et al., 2013) that specific activation of 5-HT<sub>2A</sub> receptors by TCB-2 [(4-bromo-3,6-dimethoxybenzocyclobuten-1-yl)methylamine hydrobromide] upregulates KCC2 function, restores motoneuronal inhibition and reduces SCI-induced spasticity.
KIF5A gene causes autosomal dominant spastic paraplegia 10, a neurological disorder characterized by spasticity and weakness of the lower limbs (SPG10).
Baseline cranial MRI, AIS motor and sensory scale, quality of life (spinal cord impact measurement) and modified Ashworth spasticity scale, quantitative sensory testing and neurophysiological exploration were assessed at baseline, 1, 3 and 6 months following treatment.Results Thirteen had GH deficiency.
Moreover, beneficial effects of acupuncture on subacute phase and chronic outcomes have been reported in controlling the imbalance of IGF-1 hormone and in decreasing spasticity, pain, and the incidence of neurovegetative crisis.
In conclusion, we suggest to carefully considering SLC1A4 biallelic mutations in individuals presenting an early onset severe neurodevelopmental disorder with variable spasticity and seizures, regardless the patients' ethnic background.
Baseline cranial MRI, AIS motor and sensory scale, quality of life (spinal cord impact measurement) and modified Ashworth spasticity scale, quantitative sensory testing and neurophysiological exploration were assessed at baseline, 1, 3 and 6 months following treatment.Results Thirteen had GH deficiency.
Participants with chronic traumatic SCI were administered the PSFS, a self-reported spasticity measure in which the individual documents the frequency (Part 1) and severity (Part 2) of their muscle spasms.
The outcomes of photobiomodulation include the regeneration of cells, the stimulation of the growth of Schwann cells, a reduction in spasticity, functional improvements, a reduction in nitric oxide levels, and the upregulation of the cytokine IL10, demonstrating that this therapeutic modality can offer neuroprotection.