Lesson of the week: Late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay

Essex, Charles; Roper, Helen

doi:10.1136/bmj.323.7303.37

Cited by 37 publications

(25 citation statements)

References 5 publications

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“…Others have a global developmental delay, with speech and language delay being present as well. 18 The global developmental delay and the referral to other professionals are recognized reasons for the diagnosis delay. 14,17 A pediatrician that follows carefully the developmental milestones should be warned that a neuromuscular disease may also be a cause of global developmental delay.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis delay of Duchenne Muscular Dystrophy

Araújo

Deco

Klôh

et al. 2004

Rev. Bras. Saude Mater. Infant.

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Section: Discussionmentioning

confidence: 99%

Diagnosis delay of Duchenne Muscular Dystrophy

Araújo

Deco

Klôh

et al. 2004

Rev. Bras. Saude Mater. Infant.

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“…Common presentation is with abnormal gait, calf hypertrophy and difficulty in rising from the floor between 2 and 5 years of age; speech/global developmental delay may dominate the presentation in a minority of cases 1 2. Untreated, progression of muscle weakness leads to complete wheelchair dependence by the 13th birthday, followed by scoliosis, respiratory insufficiency, cardiomyopathy and death in the late teens or early twenties.…”

Section: Duchenne Muscular Dystrophymentioning

confidence: 99%

Diagnosis and new treatments in muscular dystrophies

Manzur¹,

Muntoni²

2009

Journal of Neurology, Neurosurgery & Psychiatry

114

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Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle muscular dystrophies (LGMD) represent a significant proportion of paediatric and adult neuromuscular neurology practice. The proactive symptom-based multidisciplinary team (MDT) management and access to non-invasive ventilation have enabled improved survival into adulthood. Nevertheless the severe disability imposed by conditions such as DMD poses a challenge for successful transition of care and management for paediatric and adult neurology teams. DMD is discussed in detail as a paradigm illustrating diagnosis, management and role for different pharmacological interventions to improve survival, but also challenges in adulthood care, and cutting-edge therapies. LGMDs are much rarer than DMD and BMD, and in addition there is a significant genetic and clinical heterogeneity, which leads to diagnostic difficulties. The clinical and laboratory diagnostic features of seven LGMD subtypes are summarised, and their allelic "non-limb girdle" phenotypes are tabulated to illustrate the theme of one gene causing multiple clinical phenotypes, with the aim of refining the clinician's diagnostic approach. The lessons learnt from DMD MDT management to improve survival are broadly applicable to LGMDs with severe motor disability/multisystem complications.

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“…Several case studies have described young children (e.g., ages 3-6 years) who came to clinical attention for significant language and behavioral problems and were subsequently diagnosed with DMD (Essex & Roper, 2001;Kaplan et al, 1986;Mohamed et al, 2000). One of the few published data sets on young children with DMD (under the age of 72 months) is by Smith and colleagues (1990).…”

Section: Introductionmentioning

confidence: 99%

Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)

Cyrulnik

Fee

Batchelder

et al. 2008

J Int Neuropsychol Soc

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The goal of the current investigation was to examine adaptive behavior and cognitive skills in young children with Duchenne muscular dystrophy (DMD), a genetic disorder that causes progressive muscular weakness and concomitant cognitive deficits. Previous studies have documented specific language deficits in older children with DMD, but there are limited data on younger children. Twenty children with DMD who were between 3 and 6 years old and 20 unaffected family control children were recruited. Parents completed questionnaires relating to development and adaptive functioning, while children completed neuropsychological testing. Results of paired t tests indicate that children with DMD are rated as delayed relative to familial controls on measures of adaptive functioning, as assessed by the Vineland Adaptive Behavior Scales. Furthermore, children with DMD exhibit impairments on multiple measures of cognition, including measures of receptive language, expressive language, visuo-spatial skills, fine-motor skills, attention, and memory skills. Across all domains examined, the young children with DMD performed more poorly than their familial controls. These deficits appear to be more generalized than those reported in older children with this disorder. Dystrophin, a missing protein product, is hypothesized to be responsible for these cognitive and behavioral impairments. (JINS, 2008, 14, 853-861.)

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Lesson of the week: Late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay

Abstract: Many boys with Duchenne's muscular dystrophy present with global developmental delay before specific motor disabilities are noticed

Cited by 37 publications

References 5 publications

Diagnosis delay of Duchenne Muscular Dystrophy

Diagnosis delay of Duchenne Muscular Dystrophy

Diagnosis and new treatments in muscular dystrophies

Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)

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