2- Neuromuscular Disease - 5th year

Spinal muscular atrophy (SMA) is an __________ inherited motor unit disease.

autosomal recessive

The single gene responsible for SMA is identified as the __________ gene.

survival motor neuron (SMN)

SMA type 1 is characterized by onset before __________ months of age.

6

In SMA type 1, death usually occurs by __________ years of age.

2

SMA type II typically has onset between __________ and __________ months.

6; 12

Patients with SMA type II can eventually attain __________ sitting when placed.

independent

SMA type III (juvenile SMA) has an onset after __________ months.

12

SMA type IV is primarily a disease of __________.

adults

The typical distribution of muscle weakness in SMA is __________ and symmetrical.

proximal

Floppy infant syndrome is associated with poor muscle tone and muscle weakness in __________.

SMA type I

Deep tendon reflexes (DTR) are __________ in SMA type I.

absent

Patients with SMA type II have __________ tone associated with symmetrical proximal muscle weakness.

decreased

A positive __________ maneuver may be observed in SMA type III patients.

Gowers

Diagnosis of SMA is primarily based on __________ testing.

molecular genetic

Supportive care for SMA patients is crucial for __________.

respiratory and nutritional needs

Prenatal testing for SMA can be conducted using __________ sampling or __________.

chorionic villous; amniocentesis

Classic symptoms of infantile SMA include hypotonia, __________ weakness, and absent reflexes.

generalized

A world survey estimated a prevalence of __________ cases of SMA per 100,000.

10

Charcot-Marie-Tooth (CMT) disease can be inherited as __________, __________, or __________.

autosomal dominant; X-linked; autosomal recessive

CMT is classified based on molecular genetics and __________ patterns.

inheritance

The demyelinating autosomal dominant form of CMT is known as CMT1, affecting __________ of cases.

50%

CMT2 is the __________ type of CMT, exhibiting normal or mildly reduced nerve conduction velocity (NCV).

axonal

The group of progressive motor and sensory axonal or demyelinating neuropathies with autosomal recessive inheritance is known as __________.

CMT4

Dejerine–Sottas syndrome (DSS or CMT3) is characterized by __________ polyneuropathy with onset in infancy.

hypertrophic

Symptoms of CMT in children include difficulty in running or __________ and gait disturbances.

walking

Congenital foot deformity in CMT is characterized by __________, often associated with hammer toes.

pes cavus

Testing for CMT incorporates __________ to distinguish between demyelinating and axonal neuropathies.

EMG (electromyography)

Treatment for CMT is primarily __________ and includes using orthotics to prevent falls.

symptomatic

Guillain-Barre syndrome (GBS) is characterized by acute __________ and areflexia.

progressive motor weakness

The most common cause of acute paralysis in children is __________.

GBS (Guillain-Barre syndrome)

GBS is commonly associated with a preceding __________, usually viral or from vaccination.

infection

Symptoms of GBS typically present 2-4 weeks after a __________ illness.

viral

The progression phase of GBS lasts from __________ to __________ weeks.

1; 3

CSF analysis in GBS usually shows __________ dissociation.

albuminocytologic

The primary treatment for GBS involves __________ immunoglobulins (IVIG) or plasmapheresis.

intravenous

Children with GBS generally have a more __________ outcome compared to adults.

favorable

The Miller Fischer variant of GBS is characterized by ophthalmoplegia, __________, and areflexia.

ataxia

Myasthenia gravis is characterized by weakness and increased __________ on muscular exercise.

fatigability

In myasthenia gravis, Class I relates to ocular symptoms, while Class V indicates the need for __________.

intubation

The prevalence of myasthenia gravis is estimated at __________ cases per 10,000 individuals.

1

Approximately 10% of all cases of myasthenia gravis occur during __________.

childhood

AChR antibodies are present in __________% to __________% of myasthenia gravis patients.

80; 85

Thymic abnormalities are observed in most patients with __________ gravis.

myasthenia

Initial symptoms of myasthenia gravis commonly involve the __________ muscles.

ocular

The edrophonium chloride test has a sensitivity of __________% in patients with significant ptosis.

60; 95

Characteristic signs of myasthenia gravis include ptosis, __________, and dysphagia.

ophthalmoparesis

EMG in myasthenia gravis shows __________ responses during repetitive nerve stimulation.

decremental

Serum creatine kinase (CK) levels are usually __________ in myasthenia gravis patients.

normal

Neonatal myasthenia gravis may occur in infants born to __________ mothers.

myasthenic

Duchenne muscular dystrophy (DMD) is characterized by mutations in the __________ gene.

dystrophin

The most common hereditary neuromuscular disease is __________ MD with an incidence of 1 in 3,500 male births.

Duchenne

Duchenne MD typically manifests difficulties with climbing stairs and arising from __________.

the floor

The modified Gowers sign is observed usually by age __________ years in patients with Duchenne MD.

3

Patients with Duchenne MD often require a __________ before age 13 years due to muscle weakness.

wheelchair

The primary cause of death in Duchenne MD is usually from __________ complications.

respiratory

Becker MD exhibits later-onset skeletal muscle weakness with preservation of ambulation until __________.

late adolescence

Serum creatine kinase (CK) is always __________ in patients with Duchenne and Becker MDs.

increased

Echocardiography is important for revealing subclinical __________ in muscular dystrophy patients.

cardiomyopathy

No medical cure currently exists for Duchenne MD; however, __________ are known to modify its course.

corticosteroids

Electrocardiography is significant in all cases of __________ dystrophy.

myotonic

Myotonic dystrophy is characterized by weakness, myotonia, and early onset __________.

cataracts

Patients with myotonic dystrophy may exhibit __________ and facial hypotonia with ptosis.

face diplegia

Diagnosis of myotonic dystrophy can be confirmed by detecting abnormal expansions of __________ repeats.

CTG

Neonatal myotonic dystrophy presents with respiratory insufficiency and feeding difficulties due to __________.

weaking

Nerve conduction studies should always be conducted in cases of __________ dystrophy.

myotonic

The primary factor for managing a newborn with myotonic dystrophy involves addressing __________ and feeding needs.

respiratory

Infants with myotonic dystrophy who fail to thrive have a __________ prognosis.

poor

In myotonic dystrophy, the basic approach in later childhood includes symptomatic treatment and monitoring for complications in __________, __________, and __________.

cardiac; respiratory; ophthalmic

Prenatal diagnosis of myotonic dystrophy requires prior confirmation of __________ in an affected family member.

diagnosis

Duchenne and Becker MDs are transmitted as __________ traits.

X-linked

Myotonia is demonstrated through __________ of the thenar muscle or hand.

percussive stimulation

Facial hypotonia is often observed in myotonic dystrophy, resulting in a __________ upper lip.

tent-shaped

Electromyography tests for myotonic dystrophy may show the characteristic __________ discharges.

myotonic