14102034
Description
Flashcards by Averil Tam, updated more than 1 year ago
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Created by Averil Tam
almost 6 years ago
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| Question | Answer |
| 1. TRUE/FALSE? A. Absent or diminished reflexes are suggestive of lower motor neuron (as opposed to upper motor neuron) pathology. | True. Lower motor neuron disorders (myopathies, muscular dystrophies and peripheral neuropathies) are all characterised by absent or diminished reflexes and decreased tone, whereas upper motor neuron lesions are characterised by brisk reflexes and hypertonia. |
| 1. TRUE/FALSE? B. Floppy babies with lower motor neuron pathology are usually alert and responsive. | True. Floppy babies with lower motor neuron pathology are usually alert and responsive. Babies with a congenital myopathy may however have a characteristic facies resulting from facial weakness and muscle wasting and have feeding difficulties resulting from poor suck. |
| 1. TRUE/FALSE? C. Children with spinal muscular atrophy usually have an intellectual disability. | False. Intelligence is normal in children with spinal muscular atrophy. |
| 1. TRUE/FALSE? D. The electromyogram in spinal muscular atrophy shows a pattern of denervation. | True. Spinal muscular atrophy is characterised by degeneration of the anterior horn cells and the electromyogram shows a pattern of denervation. |
| 2. TRUE/FALSE E. Facial dysmorphism, macrocephaly or microcephaly may be an associated feature of hypotonia with underlying lower motor neuron pathology. | False. Facial dysmorphism, macrocephaly or microcephaly may be associated features when hypotonia has underlying central nervous system pathology. These babies may have seizures or diminished alertness and poor feeding (e.g. babies with hypoxic ischaemic encephalopathy). They have normal or brisk reflexes and may not have muscle weakness (ability to use antigravity muscles in newborn is a good guide to the likely absence of a neuromuscular disorder). |
| 2. TRUE/FALSE A. Duchenne muscular dystrophy follows an autosomal dominant inheritance pattern. | False. Duchenne muscular dystrophy follows an X-linked recessive pattern of inheritance. A family history to look for other affected members is an important aid to diagnosis as different muscular dystrophies and myopathies have different inheritance patterns. |
| 2. TRUE/FALSE B. Children with Duchenne muscular dystrophy always present with delayed walking. | False. Children with Duchenne muscular dystrophy often accomplish walking at a normal age. Subtle signs of hip girdle weakness however are often evident quite early. |
| 2. TRUE/FALSE C. Muscular dystrophies are generally non-progressive in nature. | False. Muscular dystrophies are by definition progressive disorders, characterised by a progressive muscular degeneration, but the rate of progress varies and may be very slow in some disorders. |
| 2. TRUE/FALSE D. Fasciculations of the tongue is a feature of muscular dystrophy. | False. Fasciculations of the tongue result from denervation and are a feature of spinal muscular atrophy. |
| 2. TRUE/FALSE E. Gowers sign is indicative of distal muscle weakness. | False. Gowers sign is suggestive of weakness involving the hip girdle. |
| 2. TRUE/FALSE F. Respiratory compromise is the commonest cause of death in children with a myopathy or muscular dystrophy. | True. Respiratory muscle weakness causing respiratory failure is the commonest cause of death in children with a myopathy or muscular dystrophy. This may be worsened by an intercurrent respiratory infection. Cardiomyopathy may also be responsible in some cases. Scoliosis, which is not uncommon, needs early detection and management as it may further compromise the respiratory function in children with a neuromuscular disorder. Chest infections need prompt detection and appropriate management (such as hospitalization, antibiotics or chest physiotherapy as needed). |
| 3. TRUE/FALSE? A. Decreased foetal movements and polyhydramnios may be present in congenital myopathies. | True. Decreased foetal movements and polyhydramnios may be present in congenital myopathies. An antenatal history is important. |
| 3. TRUE/FALSE? B. Raised serum creatine kinase is a feature of all myopathies. | False. Raised serum creatine kinase is useful marker of muscle degeneration but may be normal in congenital myopathies. |
| 3. TRUE/FALSE? C. Nerve conduction tests are difficult to perform in children with peripheral neuropathy and used only in undiagnosed cases. | False. Nerve conduction tests are an essential part of the classification of children with CMT and are a first line test and should be ideally performed prior to genetic testing. If there is a first degree affected relative with a known genetic mutation, then it is appropriate to test for that mutation in a symptomatic child. If the nerve conduction test is targeted appropriately, time is taken to explain the test to the child and parent, and with the use of nitrous oxide sedation, effective nerve conduction studies can be performed quickly in neonates, infants and older children. Nerve conduction studies should be performed prior to test on a CMT genetic panel. |
| 3. TRUE/FALSE? D. A high stepping gait is suggestive of a peripheral neuropathy. | True. A high stepping gait, due to ankle dorsiflexion weakness, is suggestive of a peripheral neuropathy. The child may have a history of frequent falls. |
| 3. TRUE/FALSE? E. Most neuromuscular disorders are not treatable. | False. Allied health interventions (including physiotherapy, occupational therapy, splints, stretching, and exercise) greatly improve quality of life in children with all types of neuromuscular disease. Surveillance for respiratory, cardiac and musculoskeletal complications and treatment with non-invasive respiratory support, cardiac drugs or pacemakers and scoliosis surgery have greatly improved survival in most neuromuscular disorders. Steroids prolong ambulation in DMD and it likely a disease-modifying therapy will be available over the next decade. An effective therapy is already available for SMA. |
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