Neuromuscular Disease Flashcards
In duchenne, when is scoliosis surgery contraindicated
When FVC<40%
Characteristic sign of limb girdle syndromes
Weakness of pelvic and shoulder girdle muscles
Genetic inheritance of duchenne
X-linked recessive at Xp21 gene
What is Steinert’s disease?
Myotonic muscular dystrophy
Genetic inheritance of spinal muscular atrophy
Autosomal recessive
Genetic inheritance of myotonia congenita
Autosomal dominant
What do the congenital myopathies have in common?
They all present with floppy baby/hypotonia
Age of Onset of friedreich’s ataxia
2-16 yo
What muscle protein is deficient in emery-dreifuss muscular dystrophy
Emerin
What needs to be closely monitored in emery-dreifuss muscular dystrophy
Cardiac status
Prognosis of GBS in adults vs children
Children recover more quickly
What blood test is elevated in duchenne
CK
Duchenne muscle weakness: ankle inverters vs ankle evertors
Ankle evertors are weaker than inverters
Which HMSN has retinitis pigmentosa
HMSN IV: Refsum disease
Muscle biopsy finding in duchenne
Degenerating fibers in clusters with necrotic fibers surrounded by macrophages and lymphocytes
Which disease do you characteristically see upside down champagne bottle leg appearance
HMSN
Genetic inheritance of myotonic muscular dystrophy
Autosomal dominant
Genetic inheritance of facioscapulohumeral muscular dystrophy
Autosomal dominant
Characteristic symptoms of myotonia congenita
- Muscular hypertrophy
2. Sx better with warmth and exercise
Which SMA shows frog-leg position
SMA I
Genetic inheritance of congenital muscular dystrophy
Autosomal recessive
1 cause of mortality in childhood neuromuscular diseases
Pulmonary complications
Age of diagnosis of duchenne
<5yo
Sitting prognosis of SMA I, II and III
SMA I = cannot sit independently
SMA II = can sit but not stand independently
SMA III = independent standing, but wheelchair by 30
In duchenne, when does scoliosis usually develop?
After loss of ambulation
Which SMA shows gower’s sign?
SMA III
What are SMA I, II and III also known as
SMA I = Werdnig-Hoffman
SMA II = Chronic Werdnig-Hoffman
SMA III = Kugelberg-Welander
When is surgical intervention for scoliosis indicated in neuromuscular disease?
When curvature is 35 degrees and before patient’s vital capacity falling below 35%.
5 characteristic findings of myotonic muscular dystrophy
- Cataracts
- Gonadal atrophy
- Hatchet face
- Frontal balding
- Cardiac arrhythmias
3 Characteristic signs of FSH muscular dystrophy
- Facial weakness - can’t whistle
- Shoulder girdle weakness
- Scapular winging
Which congenital myopathy has a predominance of Type I muscle fibers?
Central core myopathy and minicore disease
Which myotonic myopathy has arthrogryposis
Congenital myotonic dystrophy
Which congenital myopathy is associated with hypotonia
Myotubular myopathy
What does a myopathic gait look like?
Hyperlordotic waddling gait
Which congenital myopathy is associated with malignant hyperthermia?
Central core myopathy
What is the prognosis if transient neonatal myasthenia?
Self-remitting, resolves in 2-3 weeks
Most common cranial nerve involvement in GBS
Facial nerve
Earliest muscle in duchenne that demonstrates weakness
Neck flexors
Genetic inheritance of limb girdle syndrome
Autosomal recessive
Which HMSN is demyelinating and which is axonal?
HMSN I and III = demyelinating
HMSN II = axonal
Genetic inheritance of emery-dreifuss muscular dystrophy
X-linked recessive
Characteristic signs of emery-Dreifuss muscular dystrophy
- Atrophy of biceps and gastrocnemius
2. Elbow flexion contracture
Genetic inheritance of friedreich’s ataxia
Autosomal recessive
Which HMSN has pes cavus
HMSN I (CMT) and III (Dejerine Sottas)
What can happen if baby inherits ACh receptor antibodies from mother?
Transient neonatal myasthenia
Genetic inheritance of becker’s muscular dystrophy
X-linked recessive at Xp21 gene
In duchenne, at what age do you lose ambulation
8-12 yo
What is characteristic sign of myotonic myopathies?
Delayed relaxation after muscle contraction
2 characteristic signs of congenital muscular dystrophy
Contractures and hypotonia
Which HMSN has a bottle leg/stork appearance
HMSN I and II (CMT I and II)
Which HMSN is autosomal dominant
HMSN I (CMT)
