Genetic Diseases and Congenital Malformations Flashcards
What pattern of inheritance does Duchenne muscular dystrophy (DMD) follow?
X-linked recessive
When does death typically occur in DMD and why?
Between 20 and 30 years old
Cardiorespiratory muscle dysfunction
List investigations for DMD
Serum CK (raised)
Electromyography
Muscle biopsy
Genetic screen
When is the usual onset for Huntington disease?
Between 30-50 years old but can vary
What inheritance pattern does Huntington disease follow?
Autosomal dominant
What is the molecular genetic defect in Huntington disease?
Extra CAG codons (extra glutamine produced)
What are the 2 types of hydrocephalus?
Communicating - no obstruction of flow but impairment of CSF absorption at arachnoid granulations
Non-communicating - obstruction to CSF flow
Downward deviation of the globe on lid retraction in hydrocephalus is know as what? (Buzzword)
Setting-sun appearance
Normal pressure hyrocephalus is one of the few reversible causes of what?
Dementia
What is a chiari malformation
Congenital or acquired malformations of the hindbrain affecting the structural relationships between the cerebellum, medulla and upper cervical spinal cord which causes impaired CSF circulation through the foramen magnum
Chiari I malformation can be associated with what condition?
Syringomyelia
What is syringomyelia?
A rare disorder in which a cyst forms within the spinal cord
Is syringomyelia congenital or aquired?
Both
• Congenital - Arnold–Chiari malformation
• Acquired - trauma, meningitis, haemorrhage, a tumour, or arachnoiditis
(or idiopathic)
Under what conditions should syringomyelia be considered a differential diagnosis?
Syringomyelia should be considered in the differential diagnosis of ALL cases of spinal cord disease
What is the most common genetic neuromuscular dystrophy?
Myotonic dystrophy
