A M B van der Heul1, C A Wijngaarde1, R I Wadman1, F Asselman1, M T A van den Aardweg2, B Bartels3, I Cuppen1, E Gerrits4, L H van den Berg1, W L van der Pol5, L van den Engel-Hoek5. 1. Department of Neurology and Neurosurgery, University Medical Center Utrecht, Brain Center Rudolf Magnus, Utrecht, the Netherlands. 2. Department of Otolaryngology, University Medical Center Utrecht, Utrecht, the Netherlands. 3. University Medical Center Utrecht, Wilhelmina Children's Hospital, Child Development and Exercise Center, Utrecht, the Netherlands. 4. Department of Language, University Utrecht, Utrecht Institute of Linguistics OTS, Literature and Communication, Utrecht, the Netherlands. 5. Department of Rehabilitation, Radboud University Medical Center, Donders Center for Neuroscience, Nijmegen, the Netherlands.
Abstract
BACKGROUND: Spinal muscular atrophy (SMA) is hereditary motor neuron disorder, characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by the homozygous loss of function of the survival motor neuron (SMN) 1 gene. SMA shows a wide variability of disease severity. OBJECTIVE: To investigate self-reported bulbar problems in patients with SMA, and their relationship to age, functional motor scores and active maximum mouth opening. METHODS: We used the Diagnostic List of Dysphagia and Dysarthria in (pediatric) patients and relevant recent clinical data from the national SMA database. RESULTS: The 118 included patients with SMA frequently reported jaw problems (34%), fatigue associated with mastication (44%), choking (56%) and intelligibility problems (27%). Jaw, mastication and swallowing problems frequently occurred in combination with each other. There was an increase of reported bulbar problems in patients with SMA type 3a, older than 30 years of age, compared to younger patients of this SMA type.The Hammersmith Functional Motor Scale Expanded scores showed a negligible correlation with jaw and mastication problems, a low negative correlation with swallowing problems and a moderate negative correlation with intelligibility problems. Reduced mouth opening showed a significant, but low correlation with bulbar complaints in patients with SMA type 2. CONCLUSIONS: Fatigue associated with mastication and swallowing problems were frequently reported complaints. Patients 30 years and older with milder forms of SMA showed an increase of self-reported bulbar problems.
BACKGROUND:Spinal muscular atrophy (SMA) is hereditary motor neuron disorder, characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by the homozygous loss of function of the survival motor neuron (SMN) 1 gene. SMA shows a wide variability of disease severity. OBJECTIVE: To investigate self-reported bulbar problems in patients with SMA, and their relationship to age, functional motor scores and active maximum mouth opening. METHODS: We used the Diagnostic List of Dysphagia and Dysarthria in (pediatric) patients and relevant recent clinical data from the national SMA database. RESULTS: The 118 included patients with SMA frequently reported jaw problems (34%), fatigue associated with mastication (44%), choking (56%) and intelligibility problems (27%). Jaw, mastication and swallowing problems frequently occurred in combination with each other. There was an increase of reported bulbar problems in patients with SMA type 3a, older than 30 years of age, compared to younger patients of this SMA type.The Hammersmith Functional Motor Scale Expanded scores showed a negligible correlation with jaw and mastication problems, a low negative correlation with swallowing problems and a moderate negative correlation with intelligibility problems. Reduced mouth opening showed a significant, but low correlation with bulbar complaints in patients with SMA type 2. CONCLUSIONS:Fatigue associated with mastication and swallowing problems were frequently reported complaints. Patients 30 years and older with milder forms of SMA showed an increase of self-reported bulbar problems.
Authors: Hamish W Y Wan; Kate A Carey; Arlene D'Silva; Steve Vucic; Matthew C Kiernan; Nadine A Kasparian; Michelle A Farrar Journal: Orphanet J Rare Dis Date: 2020-03-12 Impact factor: 4.123