Management of Progressive Muscular Dystrophy of Childhood

Pompe disease diagnosis and management guideline

“…The following list includes most of the major assessments but is not intended to be an exhaustive listing of all possible assessments or tools used in assessments. passive ranges of motion and measures of muscle extensibility (goniometry)posture and alignment in all positions Spine: flexibility, stability, posture and alignmentmonitoring for kyphosis, scoliosis, lordosiship joint stability/integrityDEXAradiographs as needed for monitoring hip and spine status Qualitative/kinematic assessment of compensatory movement/strategies for movement strength - “pure” measures of muscle strength (specific tests chosen based on age and level of strength) manual muscle testing (MMT)Quantitative muscle testingdynamometry – different types and brandsisometric hand held or fixed – norms exist from 4 to 79 years of age122,123grip - norms exist from ages 6 years to 79 years124,125pinch - norms exist from ages 6 years to 79 years124,125other quantitative measures (isokinetic, isotonic, isometric) Functional Measures (including functional measures of strength): Alberta Infant Motor Scales126Gross Motor Function Measure (GMFM)127Timed Functional Tests128Six Minute Walk129Functional Grades130Peabody Developmental Motor Scales 2131 Pediatric Evaluation of Disability Index (PEDI)132Pompe PEDI133Functional Independence Measure (FIM)134WeeFIM135 CRIES Pain Scale136FACES Pain Scale137–139Pediatric Objective Pain ScaleVisual Analogue Scales (VAS) Short Form 36 (SF36) Health Survey140Sickness Impact Profile141Center for Disease Control HRQOL (www.cdc.gov/hrqol/hrqol14_measure.htm) PedsQL142…”

“…Functional Measures (including functional measures of strength): Alberta Infant Motor Scales126Gross Motor Function Measure (GMFM)127Timed Functional Tests128Six Minute Walk129Functional Grades130Peabody Developmental Motor Scales 2131 Pediatric Evaluation of Disability Index (PEDI)132Pompe PEDI133Functional Independence Measure (FIM)134WeeFIM135 CRIES Pain Scale136FACES Pain Scale137–139Pediatric Objective Pain ScaleVisual Analogue Scales (VAS) Short Form 36 (SF36) Health Survey140Sickness Impact Profile141Center for Disease Control HRQOL (www.cdc.gov/hrqol/hrqol14_measure.htm) PedsQL142…”

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

“…Functional measures developed specifically for older patients with neuromuscular diseases have included the Vignos lower extremity classification scale [16], the Brooke upper extremity scale [17,18], various timed functional assessments [17], and The Hammersmith motor ability scale [19]. More recently the EK scale [20] was developed for non-ambulatory patients with Duchenne's muscular dystrophy (DMD) and SMA, the Wee Fim was utilized to quantify function in children with SMA in Hong Kong [11] and the functional research scale for ALS (FRS-ALS) scale was utilized in clinical trials with adult patients with ALS [21,22].…”

Elaboração e análise de confiabilidade de escala de avaliação funcional do subir e descer escada para portadores de distrofia muscular de Duchenne (DMD)

“…A quantificação da habilidade funcional de crianças com DMD é fundamental para a tomada da decisão clínica, pesquisa da evolução da doença e análise dos benefícios de diferentes terapêuticas (D'Ângelo et al, 2006). Algumas escalas de avaliação funcional foram validadas para DMD, como por exemplo a Escala Motora Funcional de Egen Klassifikation (EK) (Martinez et al, 2006), Escala de Vignos (Vignos et al, 1963) e a Motor Function Measure (MFM) (Bérard et al, 2005). No entanto, essas escalas fornecem dados pouco específicos com tendência classificatória, e com déficit na descrição do desempenho motor, fatores que dificultam a conclusão diagnóstica mais precisa e uma abordagem fisioterapêutica mais adequada.…”

“…O trabalho mais completo, no que diz respeito à descrição cinesiológica da atividade de subir e descer escada, foi publicado por McFadyen (1988), tornando-se uma referência-chave para os estudos sobre o tema. Vignos (1963) focou a atividade de subir e descer escada como essencial na avaliação do estadiamento clínico dos portadores de DMD. Scott e Mawson (2006) sugerem a avaliação desta atividade por meio de escalas que analisem a atividade detalhadamente e que descrevam mudanças na habilidade funcional.…”