Quid Refert, Dummodo non Desinas, Tardius Ire

NEURO: NEUROMUSCULAR DISEASES

PEDIATRICS DRA. DIAZ

Scale for Evaluation of Muscle Power

0- No contraction

1- Flicker or trace of contraction

Anatomical Approach to Neuromuscular Diseases
2- Active movement, with gravity eliminated

3- Active movement against gravity

4 Active movement against gravity and resistance

5 Normal power

You always look at the posture. So dapat lagi kang may flexures sa extremities Interdependence of neural connections between central and
So yung unang picture daw yung normal. Yung 3rd left picture floppy infant peripheral nervous system
syndrome

How many steps bago ka makabangon sa morning? Sagot ko: madami po kaya
ako lagi late hahaha! Usually daw ang normal is 2-3 steps bago ka
makabangon.hehe
Gowers sign- it takes 8 steps bago sya makatayo
And then you will notice pag stand nya, the posture is abnormal, masyadong
lordotic, its an indication that he is balancing inorder to prevent himself from
falling. Suprasegmental Conditions
EXAMPLES
• Nonspecific mental deficiency
• Hypotonic cerebral palsy
• Birth trauma, hemorrhage, hypoxia
• Chromosomal disorders
• Metabolic, Nutritional and Endocrine Disorders
Congenital Heart Diseases
NO DIRECT INVOLVEMENT OF PERIPHERAL NERVOUS SYSTEM and
MUSCLES

Laughter is the best medicine. But if your laughing

without any reasin then you need medicine . hahaha Page 1 of 3 FRED
 • better prognosis

Mild Spinal Muscular Atrophy

Suprasegmental Conditions: Features Kugelberg Welander Disease
 Hypotonia –most prominent • normal milestones up to 1st year of life
 normoactive , decreased or increased DTR’s • mild weakness-involves pelvic girdle,arms, hands
• normal or depressed DTR’s
 normal motor power
• no respiratory difficulty
 normal EMG • compatible with adult life
 normal muscle biopsy
 should be diagnosed within 2 weeks para mabigay mo yung Peripheral Neuropathies
hormone replacement daw? Demyelinating-more serious type
 motor conduction velocity is markedly slowed to half the normal
Anterior Horn Cell rate
• Hereditary- spinal muscular atrophies  ex. Infectious polyneuritis,peroneal muscular atrophy,
• Acquired- Poliomyelitis leucodystrophies

Anterior Horn Cell: Features

• hypotonia Axonal
• decreased motor power • conduction velocity may be normal or only slightly
• normal deep tendon reflexes depressed
• muscle atrophy ex. Toxins,diabetes,porphyria –lead or arsenic neuropathy
pag peripheral neuropathy, muscle weakness is more prominent in
• abnormal EMG
the DISTAL AREAS
In contrast to the MYOPATHIES - distribution of muscle weakness
Spinal Muscular Atrophies are more prominent on the PROXIMAL areas
• Severe Spinal Muscular Atrophy
• ( Werdnig Hoffman Disease) Hereditary
• Intermediate Severity Spinal Muscular Atrophy Hereditary Motor and Sensory Neuropathies
• Mild Spinal Muscular Atrophy HMSN I -hypertrophic neuropathy(peroneal muscular
• Kugelberg Welander Disease atrophy
HSMN II -neuronal type of peroneal muscular atrophy
HSMNIII –hypertrophic neuropathy of
Wernig Hoffman Disease
infancy(Dejerine’s Sottas)
• early onset- birth to 1st 3 months of life HSMN IV-hypertrophic neuropathy with excess
• generalized hypotonia phytanic acid (Refsum’s disease)
• marked weakness HSMN V –peripheral neuropathy with spastic diplegia
• tendon reflexes absent
• frog leg posture
Acquired
• recurrent respiratory infection- due to weak respiratory muscles
• dies within 1st 2 years of life  Infectious- poliomyelitis
• on prenatal hx, you ask when do you feel the first movement of the  Traumatic-Erb Duchenne’s Palsy
baby? When do you normally feel the fetal movement? At 20  Metabolic- Diabetes
weeks  Nutritional- Vitamin B deficiency
• sila, decreased or absent fetal movement
• no treatment Neuromuscular Junction
Myasthenia Gravis: Types
1.Transient Neonatal-infants of myasthenic mothers,limp with
genralized hypotonia,difficulty in sucking and swallowing, ptosis and
facial weakness, lasts for 2-4 weeks
2. Congenital or Infantile-non-myastenic mothers,onset after the
neonatal period, usually within the 1st 1-2 years of life,weak cry,
grunting,generalized weakness,respiraory difficulties -persistent
3. Juvenile-onset between 2- 20 yrs, ptosis with or without
opthalmoplegia,weakness particularly at the end of the day
MANAGEMENT
• Anticholinesterase drugs
• Steroids
• Immunosuppressants
• Thymectomy – by the time the patient reaches the age of 10
Acetylcholine is involved
An autoimmune disease
Fish mouth appearance daw sa picture.. di naman siguro maglalabas ng
Intermediate Severity Spinal Muscular Atrophy picture sa exam haha
Dx: tensilon test- effect is very dramatic, but the effect is very short so
• Starts manifesting above 6 months of life
you have to be very observant
• able to sit unaided but not able to stand or walk
EMG
• tremors of the hand
• normal intellect Muscle Disorders
• live up to adolescence or adulthood  Muscular dystrophies
• respiratory problems if intercostals are affected
 Myotonic dystrophies

Insert here anything you want to say Page 2 of 3  Your Name 

  Metabolic myopathies
 Congenital myopathies

Muscular dystrophies
Group of genetically determined disorders with progressive
degeneration of skeletal muscle and no structural
abnormality in the CNS or PNS

These children are born normal and starts manifesting the disease
at the age of 4-5 yrs old. They start walking like a duck.. –demo
daw po kingsley hahahahah

By the time they reach the age of 10 they are wheelchair bound

By the time they reach the age of 15-16 they become bedridden

Then eventually involves the cardiac and respiratory muscles. Some

of them are dependent in respiratory ventilators, some will last for
a long time kasi they are awake and alert, you just have to support
the respiration. They are also prone to respiratory infx

Myotonic Dystrophies
Clinical feature common to all myotonic disorders is MYOTONIA
which is a state of delayed relaxation or sustained contraction

Congenital Myopathies
Group of diseases which my present at birth or much later as varied
degrees of muscle weakness, mainly proximal but others diffuse having
structural changes in the muscles or recognizable biochemical defects

A.Metabolic /Endocrine Myopathies

 Inborn errors of metabolism
 Thyroid disorders
 Pituitary and adrenals
 Nutritional myopathies –marasmus and kwashiorkor

B.Structural
 Central core disease
 Minicore disease
 Nemaline myopathy
 Mitochondrial myopathy
 Dx: EMG

In summary, most of the neuromuscular d/o have no cure for exam you
myasthenia gravis cannot be cured, parang DM lang yan. You can control and
alleviate the sx but you cannot be cured. So what is important is you diagnose
and educate the patient because you cannot do much.

Insert here anything you want to say Page 3 of 3  Your Name 