Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I

Brun, Brianna N.; Mockler, Shelley R.H.; Laubscher, Katie M.; Stephan, Carrie M.; Collison, Julia A.; Zimmerman, M. Bridget; Mathews, Katherine D.

doi:10.1177/0883073816677680

Cited by 8 publications

(9 citation statements)

References 25 publications

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“…Exercise has been reported to induce symptoms, and in multiple instances the initial presentation was rhabdomyolysis or myoglobinuria. 32,33 Compared to other forms of LGMD, patients will often report exercise-induced pain. Loss of ambulation typically occurs in the twenties and thirties, particularly with heterozygous mutations.…”

Section: Commentmentioning

confidence: 99%

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The Limb-Girdle Muscular Dystrophies

Johnson¹,

Statland²

2022

CONTINUUM: Lifelong Learning in Neurology

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PURPOSE OF REVIEW: The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders with a common feature of limb-girdle pattern of weakness, caused by over 29 individual genes. This article describes the classification scheme, common subtypes, and the management of individuals with LGMD.RECENT FINDINGS: Advances in genetic testing and next-generation sequencing panels containing all of the LGMD genes have led to earlier genetic confirmation, but also to more individuals with variants of uncertain significance. The LGMDs include disorders with autosomal recessive inheritance, which are often due to loss-of-function mutations in muscle structural or repair proteins and typically have younger ages of onset and more rapidly progressive presentations, and those with autosomal dominant inheritance, which can have older ages of presentation and chronic progressive disease courses. All cause progressive disability and potential loss of ability to walk or maintain a job due to progressive muscle wasting. Certain mutations are associated with cardiac or respiratory involvement. No disease-altering therapies have been approved by the US Food and Drug Administration (FDA) for LGMDs and standard treatment uses a multidisciplinary clinic model, but recessiveLGMDs are potentially amenable to systemic gene replacement therapies, which are already being tested in clinical trials for sarcoglycan and FKRP mutations. The dominant LGMDs may be amenable to RNA-based therapeutic approaches. SUMMARY: International efforts are underway to better characterize LGMDs, help resolve variants of uncertain significance, provide consistent and improved standards of care, and prepare for future clinical trials.

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Section: Commentmentioning

confidence: 99%

“…Calf hypertrophy is present in most patients. Exercise has been reported to induce symptoms, and in multiple instances the initial presentation was rhabdomyolysis or myoglobinuria 32,33 . Compared to other forms of LGMD, patients will often report exercise-induced pain.…”

Section: Common Subtypes Of the Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

The Limb-Girdle Muscular Dystrophies

Johnson¹,

Statland²

2022

CONTINUUM: Lifelong Learning in Neurology

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“…There were variations in test administration; thus, an appropriate protocol was adapted from a literature review. While some previous studies used 10-m10–12 and 14-m course pathways,13–15 others used varied methods and distances or did not quantify the length of the course 5–7,16–19. We chose 10 m for 3 reasons: (1) the space and materials are available in most US school, (2) 10 m is a distance that many children with disability may be able to traverse, and (3) there were comparable studies that had used a 10-m course.…”

Section: Methodsmentioning

confidence: 99%

Pediatric Walking Speed Normal Reference Values in a Local Population

Cadieux

Pyhala

Johnson

2023

Pediatric Physical Therapy

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Purpose: This study's aim was to develop a local walking speed norm using the 10-m walk test (10MWT) for 5- to 17-year-old children and youth who are developing typically. Methods: Healthy child and adolescent participants were recruited from schools in one rural Alaska school district. The 10MWT was performed using a 2 repetitions per speed protocol. Outcome measures were average time for the normal and fast-speed trials, separated by age and gender. Results: Average walking speed was established in this group of children and youth who are developing typically by age and gender. Conclusions: Local walking speed norms for 5- to 17-year-olds can be accurately obtained by examining students in a rural school district.

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“…The neurological involvement in severe forms of dystroglycanopathy can include brain malformations that manifest as type II lissencephaly or focal pachygyria/polymicrogyria, midbrain/pontine/cerebellar hypoplasia, hydrocephalus, white matter abnormalities, and retinal dysplasia 50,51 . The majority of patients with abnormal MRI findings have moderate‐to‐severe intellectual disability, 52,53 and epilepsy is seen in roughly 30% of patients with detectable brain malformations 54 . Intellectual disability is also frequently observed in dystroglycanopathy patients with normal MRI, potentially highlighting an important role for Dag1 beyond regulating early structural development of the brain 55 …”

Section: Disease Phenotypesmentioning

confidence: 99%

The many roles of dystroglycan in nervous system development and function

Jahncke

Wright

2022

Developmental Dynamics

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The glycoprotein dystroglycan was first identified in muscle, where it functions as part of the dystrophin glycoprotein complex to connect the extracellular matrix to the actin cytoskeleton. Mutations in genes involved in the glycosylation of dystroglycan cause a form of congenital muscular dystrophy termed dystroglycanopathy. In addition to its well-defined role in regulating muscle integrity, dystroglycan is essential for proper central and peripheral nervous system development. Patients with dystroglycanopathy can present with a wide range of neurological perturbations, but unraveling the complex role of Dag1 in the nervous system has proven to be a challenge. Over the past two decades, animal models of dystroglycanopathy have been an invaluable resource that has allowed researchers to elucidate dystroglycan's many roles in neural circuit development. In this review, we summarize the pathways involved in dystroglycan's glycosylation and its known interacting proteins, and discuss how it regulates neuronal migration, axon guidance, synapse formation, and its role in non-neuronal cells.

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Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I

Cited by 8 publications

References 25 publications

The Limb-Girdle Muscular Dystrophies

The Limb-Girdle Muscular Dystrophies

Pediatric Walking Speed Normal Reference Values in a Local Population

The many roles of dystroglycan in nervous system development and function

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