Carter G T, Abresch R T, Fowler W M, Johnson E R, Kilmer D D, McDonald C M
Department of Physical Medicine and Rehabilitation, University of California, Davis 95616, USA.
Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S150-9. doi: 10.1097/00002060-199509001-00009.
Forty-five individuals with spinal muscular atrophy (SMA) types II and III were evaluated prospectively over a 10-yr period to develop an impairment and disability profile. SMA II subjects showed marked weakness and progressive decline of strength. Mean manual muscle test (MMT) score for all muscles combined was 2.3 +/- 0.6, with a decline in strength of -0.24 MMT units per decade. SMA III individuals had a relatively static or very slowly progressive course and were far stronger. Mean MMT score for all muscles combined was 3.8 +/- 0.7, and the decline in strength per decade was not significant. In both types proximal weakness was greater than distal, but there was greater involvement of the lower extremities and the extensor muscle groups only in SMA II. Contractures, progressive scoliosis, and restrictive lung disease (RLD) were present in most of the SMA II individuals, but these complications were rare in SMA III. Maximal expiratory pressures were affected earlier and to a greater degree than vital capacity. Seventy-eight percent of those with SMA II had scoliosis with a mean Cobb angle of the primary curve of 62 +/- 37 degrees. Forty-one percent had severe RLD, and 17% had moderate RLD. In both types, 63% had abnormal electrocardiograms although most had minor findings. Timed motor performance and functional evaluations indicated that muscle weakness translated to substantial disability in both SMA II and III, with more severe impairment noted in SMA II. Neither type was associated with abnormal means scores on intellectual and neuropsychologic test batteries.
在10年期间，对45例II型和III型脊髓性肌萎缩症（SMA）患者进行了前瞻性评估，以建立损伤和残疾概况。II型SMA患者表现出明显的肌无力和力量进行性下降。所有肌肉综合手动肌力测试（MMT）平均得分为2.3±0.6，每十年力量下降-0.24个MMT单位。III型SMA患者病程相对静止或进展非常缓慢，且力量要强得多。所有肌肉综合MMT平均得分为3.8±0.7，每十年力量下降不显著。在两种类型中，近端肌无力均大于远端，但仅在II型SMA中，下肢和伸肌肌群受累更严重。大多数II型SMA患者存在挛缩、进行性脊柱侧弯和限制性肺病（RLD），但这些并发症在III型SMA中很少见。最大呼气压力比肺活量更早且更严重地受到影响。78%的II型SMA患者患有脊柱侧弯，主弯平均Cobb角为62±37度。41%的患者患有严重RLD，17%的患者患有中度RLD。在两种类型中，63%的患者心电图异常，尽管大多数表现轻微。定时运动表现和功能评估表明，肌无力在II型和III型SMA中均导致严重残疾，II型SMA的损伤更严重。两种类型均与智力和神经心理测试组的平均得分异常无关。
