Mary-Lynn Y Chu, M.D.

Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage
Rosales, Xiomara Q; Chu, Mary-Lynn; Shilling, Christopher; Wall, Cheryl; Pastores, Gregory M; Mendell, Jerry R
2008 Jul;23(7):748-751, Journal of child neurology
This study tested the hypothesis that gamma-glutamyl transferase (GGT) can be used as a reliable biomarker to distinguish skeletal muscle from liver damage. Twenty-eight Duchenne muscular dystrophy subjects with proven dystrophin gene mutations were enrolled. Included were 14 ambulatory and 14 nonambulatory patients with approximately half of each cohort taking corticosteroids. Twenty normal males served as controls. Initial blood samples for serum GGT and creatine kinase were taken between 8AM and 9AM and redrawn 8 hours later to test for variability. Between blood draws, subjects resumed normal activities in a play environment or could leave the clinic. Not a single duchenne muscular dystrophy patient showed a GGT outside the control range at any time point, while creatine kinase levels were 14 to 200 times normal. Validation of this finding is essential for management of patients with muscle disorders exposed to potentially hepatotoxic drugs for clinical management or monitoring subjects participating in clinical trials
— id: 96996, year: 2008, vol: 23, page: 748, stat: Journal Article,

The use of tiagabine in pediatric spasticity management
Chu, Mary Lynn; Sala, Debra A
2006 Jun;48(6):456-459, Developmental medicine & child neurology
Tiagabine, developed as an anti-epileptic medication, has the potential to reduce spasticity. The purpose of the present study was to assess the effectiveness of tiagabine in decreasing spasticity and improving the functional abilities of children with spastic cerebral palsy (CP). Nine children (seven females, two males) with CP (six spastic quadriplegia, three moderate to severe spastic diplegia) were treated with tiagabine for a mean of 7.2 months. Median age was 4y 5mo (range 3y 2mo-10y). All children were non-ambulatory. According to the Gross Motor Function Classification System, six were Level IV and three were Level V. Only one child showed a median decrease >or=1.0 grade on the modified Ashworth scale in upper extremities, lower extremities, and overall. Another child had significant improvement in the Pediatric Evaluation of Disability Inventory Self-care score and improved feeding. None of the participants was found to have a significant improvement in motor function or a decrease in the number of motions (passive range of motion and muscle length test) that were limited. Reduction of nocturnal awakenings from painful spasms was reported in one child. Eight of the nine children experienced adverse side-effects during treatment. Although tiagabine was not found to be effective in decreasing children's spasticity or improving their function, its potential use in the relief of painful spasms associated with neurological conditions in the pediatric population warrants further investigation
— id: 64669, year: 2006, vol: 48, page: 456, stat: Journal Article,

Intrathecal baclofen in X-linked adrenoleukodystrophy
Chu ML; Sala DA; Weiner HL
2001 Feb;24(2):156-158, Pediatric neurology
X-linked adrenoleukodystrophy is a progressive neurodegenerative disorder involving the destruction of white matter in the brain and adrenocortical hormone deficiency. Clinical symptoms first appear between 4 and 8 years of age and include spasticity, visual loss, dysphagia, and seizures. In this report, continuous infusion of intrathecal baclofen was used to treat the severe spasticity of an 8-year-old patient with X-linked adrenoleukodystrophy. The improvement in this patient's quality of life, including the elimination of pain and the increased ease of care, suggests that intrathecal baclofen should be considered as part of the treatment strategy for spasticity associated with X-linked adrenoleukodystrophy and other neurodegenerative disorders in children and adults
— id: 26761, year: 2001, vol: 24, page: 156, stat: Journal Article,

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation
Guillen-Navarro E; Wallerstein R; Moran E; Chu ML; Grant A
1998 Mar;100(1):64-67, Clinical neurology & neurosurgery
A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern
— id: 7587, year: 1998, vol: 100, page: 64, stat: Journal Article,

Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests
Chu ML; Berlin D; Axelrod FB
1996 Jul;129(1):156-159, Journal of pediatrics
We describe two Hispanic adolescents with Allgrove syndrome (alacrima, achalasia, and sensorimotor polyneuropathy) in whom we documented cholinergic dysfunction by cardiovascular autonomic tests. Both patients had orthostatic hypotension and decreased heart rate variability
— id: 6987, year: 1996, vol: 129, page: 156, stat: Journal Article,