Genetic Syndromes Flashcards
X-linked recessive muscular dystrophy –> slowly progressing muscular weakness in the legs and pelvis, later in life (pre-teens), no cognitive impairments of myopathy
Becker muscular dystrophy
X-linked recessive with an absence of dystrophin, and starts in childhood at around 2 to 6 years of age; 20-50% of children have cognitive impairment
Duchenne muscular dystrophy
Caused by expansion of GAA, and results in cerebellar degeneration and gait disturbance; peak onset is 10-13; also results in hearing loss, dysarthria, and cognitive deficits
Friedreich’s ataxia
Multi-systemic disease that affects mainly adults, and results in wasting of the muscles, cataracts, heart conduction defects, endocrine changes, and myotonia
Myotonic dystrophy
X-linked recessive (ABCD1 gene); abnormal protein in peroxisome, responsible for breaking down long chain fatty acids
Adrenoleukodystrophy
X-linked recessive; affects males –> spastic paresis, neuropathy, dementia; adrenal insufficiency common (low sodium, high potassium, low cortisol)
Adrenoleukodystrophy
___ is an autosomal recessive lysosomal storage disease; deficiency of aryl sulfatase A deficiency –> muscle wasting, seizures, developmental delays, blindness and swallowing difficulties in children and dementia in adults.
Metachromatic leukodystrophy
___ is a lysosomal storage disease; autosomal recessive –> neurological deficits including seizures, swallowing difficulties and developmental delays
Krabbe disease
W/o treatment with a special low-phenylalanine diet, these children with ___ develop permanent intellectual disability-seizures, delayed development, behavioral problems, and psychiatric disorders are also common
Phenylketonuria
Neurological manifestations include chorea, dementia, ataxia, axonal neuropathy and seizures. CK levels and sometimes hepatic transaminases may be increased
Neuroacanthocytosis
Clinical triad of ___ is intellectual disability, seizures, and hamartomas
Tuberous sclerosis
Stiff Person Syndrome is associated w/ ___ antibodies; p/w progressive fluctuating muscular rigidity. Typically the rigidity affects the axial muscles of the back, abdomen, hips, and shoulders
Anti- glutamic acid decarboxylase (GAD) antibodies
“With ___, the child develops normally for the first 5 months (or so) of his/her life. Then, sometime between 6 months and 4 years of age, the child loses social and communication skills. The child is often left with ““profoundly impaired expressive and receptive language.”””
Rett syndrome
In ___ the first clue in an infant is often the presence of seizures, delayed development or white patches on the skin. Between 25% and 61% of affected individuals meet the diagnostic criteria for autism spectrum disorder
Tuberous sclerosis
___ is a genetic disorder where the child tends to also have poor language skills; the child is very friendly and often trusts strangers.
Williams syndrome
___ is an X-linked dominant (lethal in males) syndrome characterized by agenesis of the corpus callosum, developmental delay, and infantile spasms. Associated features may include colobomas of the eye or microphthalmia.
Aicardi syndrome
___ is an X-Linked lysosomal storage disease that causes cardiomyopathy, skin lesions and renal failure; deficiency in ___
Fabry’s disease; a-galactosidase A
___ occurs in girls between 6 and 18 months of age, is characterized by loss of milestones and decrease in head circumference. It is believed to be caused by mutation in the MECP2 gene.
Rett syndrome
___ is an X-linked recessive condition that is caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase
Lesch Nyhan syndrome
Wilson disease, an autosomal recessive disorder due to a mutation in the ATP7B gene. In Wilson’s disease, excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. On lab values, it is characterized by ___
low serum ceruloplasmin, low serum copper and high urine copper levels
___ is a rare neurological condition of unknown etiology that begins in childhood or adolescence and is characterized by episodes of hypersomnolence and altered behaviors during wakefulness
Kleine-Levin syndrome
Creutzfeldt-Jakob disease classically shows ___ on EEG and is positive for ___ in the CSF fluid
periodic sharp wave complexes; specific protein 14-3-3
___ is caused by mutations in the gene MECP2 located on the X chromosome and can arise sporadically or from germline mutations. MECP2 codes for the protein methyl cytosine binding protein 2 (MeCBP2)
Rett syndrome
___ is characterized by non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin. Symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease
Tuberous sclerosis
___ is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively
Tuberous sclerosis
___ is a severe childhood-onset epilepsy. It is characterized by multiple and concurrent seizure types, cognitive dysfunction, and slow spike waves on electroencephalogram (EEG)
Lennox- Gastaut
___ is characterized by developmental disability and intellectual disability, maternal gene deleted and, paternal turned off by genetic imprinting
Angelman Syndrome Chrom 15
___ is an autosomal recessive glycogen storage disease caused by a deficiency in lysosomal alpha-glucosidase, which normally participates in the metabolism of glycogen into glucose. Adults suffer from a slowly progressive myopathy with respiratory failure
Acid maltase deficiency
A 3-year-old child had normal delivery, poor language development, and normal head circumference. In prekindergarten, the caretaker started to notice stereotypic hand wringing movements. The child’s head growth has decelerated, and purposeful hand movement has been lost. What is dx?
Rett Syndrome
