Learn about the disorders we study, including their symptoms, management and treatment.
Spinal muscular atrophy is a degenerative problem that affects the motor nerves, resulting in muscle wasting and weakness. Spinal muscular atrophy occurs in approximately one in 6,000-10,000 live births.
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder in which repeated, temporary attacks of paralysis occur, affecting one side of the body or the other, or even both sides at once. Complete paralysis of one side of the body is known as hemiplegia and paralysis of both sides at the same time is known as quadriplegia.
Pediatric Neurotransmitter Deficiency Disorders (PNDs)
The term “neurotransmitter disorders” constitutes a broad and increasingly complex spectrum of neurologic conditions associated with defects in the production, transport, release and reuptake of a variety of chemical compounds involved in the ability of nerve cells in the brain and spinal cord to communicate with each other. The purpose of this section is to provide an overview of such disorders, with an emphasis on disorders associated with a dopamine or serotonin deficiency state.
- Pediatric-Neurotransmitter-Deficiency-Disorders: PNDs with Normal Phenylalanine Levels
Neurotransmitter deficiency disorders with normal blood phenylalanine levels span an increasingly complex spectrum of clinical phenotypes, ranging from ataxia and mental retardation to spastic diplegia to exercise-induced dystonia. The lack of ascertainment by way of newborn screening and increasingly broad phenotypic spectrum makes these disorders as a group much more challenging to recognize.
- Pediatric-Neurotransmitter-Deficiency-Disorders: PNDS with Elevated Phenylalanine Levels
The neurotransmitter deficiency in infants in this group arises as a result of defects in BH4 metabolism. Patients are usually identified by elevated phenylalanine levels on newborn screening, as BH4 is required for phenylalanine hydroxylation in the liver.
Pyridoxine (vitamin B6) supplementation may be beneficial in some cases, since B6 is a cofactor for the AADC enzyme. To help determine whether addition of pyridoxine is of benefit, it may be helpful to begin treatment, then repeat a lumbar puncture at approximately the same time of day as the initial LP to see if there is any significant change in neurotransmitter metabolite levels. It may be of value to check s-adenosyl methionine and folate metabolite levels as well as DHPG.
Congenital muscular dystrophies are a genetically diverse group of disorders resulting in muscle weakness with or without joint contractures. Collagen VI myopathies include two disorders, Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). These disorders had initially been considered distinct, but have since been connected to the three genes that encode collagen VI: COL6A1, COL6A2, and COL6A3. Both disorders share an unusual combination of laxity in some joints with contractures in others.
BridgeMar Syndrome is a unique and severe neurodegenerative disorder first observed in affected sisters by Dr. John Optiz. The genetic etiology of BridgeMar Syndrome remains unknown, but autosomal recessive inheritance is suspected. Parents are nonconsanguinous (unrelated) and have one unaffected child, a son. Although we suspect the disorder is inherited, the exact cause of the disorder remains unknown.
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