Table 1.
Overview of clinical characteristics reported in HBSL and LBSL.
| Clinical characteristics | HBSL (n = 16)a, % of cases reported | LBSL (n = 67)b, % of cases reported |
|---|---|---|
| Male | 56.3 | 46.3 |
| Unsupported Walking | 31.3 | 55.2 |
| Lower Limb Signs | ||
| Hypertonia | 87.5 | 65.7 |
| Hyperreflexia | 87.5 | 52.2 |
| Positive Babinski Sign | 81.3 | 52.2 |
| Cerebellar Signs | ||
| Ataxia | 50.0 | 70.1 |
| Tremor | 0.0 | 26.9 |
| Dysmetria and/or Dysdiadochokinesia | 18.8 | 11.9 |
| Nystagmus | 50.0 | 17.9 |
| Others | ||
| Dysarthria | 18.8 | 19.4 |
| Muscle Weakness | 12.5 | 43.3 |
| Muscle Cramps | 0.0 | 4.5 |
| Peripheral Neuropathy | 0.0 | 28.4 |
| Dorsal Column Dysfunction | 6.3 | 49.3 |
| Seizures | 12.5 | 13.4 |
| Cognitive Impairment | 37.5 | 34.3 |
| Visual Changes | 62.5 | 11.9 |
| Hearing Changes | 0.0 | 4.5 |
| Urinary Changes | 6.3 | 9.0 |
| Foot Deformities | 0.0 | 14.9 |
| Anemia | 0.0 | 1.5 |
Tremor encompasses intention tremor and reports of unspecified tremor. Visual changes include changes such as optic disc pallor, hypermetropia, optic atrophy, and myopia. Hearing changes include hyperacusis, hypoacusis, and sensorineural deafness. Urinary changes include increased urgency, incontinence, and changes in urine composition. Foot deformities include pes cavus, pes equinus, pes excavatus, hammertoe deformity, and contractures of the foot. Only data from full-text publications was included in this table. Characteristics were deemed to be not present if the feature was not mentioned, not investigated, or if they were stated to be normal (where applicable).
References: (Van Der Knaap et al., 2003; Linnankivi et al., 2004; Serkov et al., 2004; Petzold et al., 2006; Labauge et al., 2007, 2011; Távora et al., 2007; Uluc et al., 2008; Erturk et al., 2010; Isohanni et al., 2010; Lin et al., 2010; Galluzzi et al., 2011; Mierzewska et al., 2011; Miyake et al., 2011; Orcesi et al., 2011; Sharma et al., 2011; Synofzik et al., 2011; Moore et al., 2012; Steenweg et al., 2012; Tzoulis et al., 2012; Cheng et al., 2013; Martikainen et al., 2013; Schicks et al., 2013; Alibas et al., 2014; Kassem et al., 2014; Tylki-Szymanska et al., 2014; Kohler et al., 2015; Navarro Vázquez et al., 2016; Lan et al., 2017; Shimojima et al., 2017; Cavusoglu et al., 2018; Gonzalez-Serrano et al., 2018; Werner et al., 2018; Yahia et al., 2018; Yelam et al., 2019; Ikazabo et al., 2020).