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Cerebral palsy, cerebellar ataxia, AIDS, phacomatosis, neuromuscular disorders, and epilepsy
Published in Jacques Corcos, David Ginsberg, Gilles Karsenty, Textbook of the Neurogenic Bladder, 2015
Christopher Kobylecki, Ling K. Lee, Mark W. Kellett
Reports of urinary dysfunction in rarer autosomal dominant forms of SCA are less commonly published. A case report of a patient with cerebellar ataxia and prominent urge incontinence was initially diagnosed as MSA-C but was subsequently found to have SCA17. Urodynamic studies showed decreased bladder capacity of 140 mL, with marked detrusor overactivity but no residual postmicturition volume, sphincter dyssynergia, or neurogenic sphincter change; oxybutynin improved urinary symptoms.29 Urinary symptoms had not hitherto been identified as a feature of SCA17, expanding the phenotype of this condition and indicating the importance of further investigations in the differential diagnosis between MSA-C and inherited SCAs. Sakakibara et al.30 have also reported a 54-year-old man diagnosed with dentatorubral pallidoluysian atrophy with urinary incontinence, in whom urodynamic studies showed detrusor hyperactivity during filling, and underactive detrusor on voiding with detrusor–sphincter dyssynergia. The authors speculated that involvement of the dentatorubral and pallidoluysian systems could explain detrusor overactivity, while pathology in the spinal cord, including Clarke’s nucleus, could explain detrusor underactivity and detrusor–sphincter dyssynergia.30,31 Urinary incontinence was present in seven of a series of nine patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay, together with other autonomic features, suggesting that the recognized phenotype in this condition could be wider than previously reported.32
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Early-onset epilepsy and cognitive decline: Common causes: Lafora's disease.NCL.NPC.Uncommon causes: Sialidosis type 1 (cherry-red spot syndrome).Gaucher's disease (mainly type 3).GLUT1 deficiency.SPAX5 (AFG3L2 mutations).Familial encephalopathy with neuroserpin deposits.Autosomal recessive spastic ataxia of Charlevoix–Saguenay.C9ORF72 expansions.CERS1 deficiency.Congenital generalized lipodystrophy type 2.CACNA1A mutations.
Intensive voice treatment (the Lee Silverman Voice Treatment [LSVT®LOUD]) for individuals with Wilson’s disease and adult cerebral palsy: two case reports
Published in Logopedics Phoniatrics Vocology, 2022
Esra Ertan, Hakan I. Gürvit, Haşmet H. Hanağası, Başar Bilgiç, Müge A. Tunçer, Cemil Yılmaz
Wilson’s disease (WD) is a rare genetic disorder of copper metabolism that occurs in approximately one in 30,000 people worldwide [1,2]. This prevalence is increased in the countries where a higher rate of consanguineous marriage occurs, as in Turkey [3]. Neurological problems are related to copper accumulation in the basal ganglia, brainstem, and cerebellum [4]. Dysarthria has always been a point of concern since the disease has been identified [5]. It is the most frequent neurological manifestation, seen in 85–97% of the cases, and can be one of the earliest signs of WD [6–8]. Damage to the basal ganglia, cerebellar nuclei, their tracts and cortico-bulbar tracts can lead to dystonic and parkinsonian, cerebellar, and pseudobulbar characteristics respectively [9]. Dysarthria can be mixed, showing different combinations of spastic, ataxic, hypokinetic, and dystonic components, and each type of dysarthria can occur in isolation in people with WD [7,10–12]. Impaired vocal loudness, imprecise articulation, hypernasality, mono-pitch, and speech rate can be the features of dysarthria [13,14]. Previous studies on the treatment of ataxic dysarthria have focused mainly on respiratory control, modification of rate, and loudness or pitch control, and positive responses to these techniques have been reported in the literature [15,16]. However, Vogel et al. [17], reviewed the effects of interventions for speech disorders in adults and children with Friedreich ataxia and other hereditary ataxias. They concluded that there is no sufficient or good quality evidence for the effectiveness of any treatment for hereditary ataxia syndromes. Besides LSVT®LOUD (explained below), another treatment approach has shown positive outcomes on speech intelligibility and naturalness in autosomal recessive spastic ataxia of Charlevoix–Saguenay. The treatment is an intensive home-based approach delivered through portable digital devices [18]. There is no specific treatment for dysarthria in WD; instead, general dysarthria management rules are offered. Litwin et al., [19] suggested LSVT for hypokinetic dysarthria, relaxation techniques for spastic dysarthria and methods that modify the speech rate for ataxic dysarthria. Augmentative communication techniques have also been suggested to provide effective communication [10,13].