FLOPPY INFANT SYNDROM,CHENNELOPATHY, CRAMP.pdf

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1. FLOPPY INFANT SYNDROME,CHENNELOPATHIES
AND CRAMPS
BY-KEERTI GOUR
MPT NEUROLOGY

2. FLOPPY INFANT SYNDROME:
Floppy infant syndrome (FIS) is defined as a decrease in muscular tone that varies in
severity and duration.
Floppy infant syndrome, also sometimes referred to as rag-doll syndrome, is characterized
by hypotoniathat could present as either peripheral hypotoniaor central. the infant will
present with different symptoms that ultimately have the characteristic feature of
hypotonia.
SIGNS:
Frog-leg posture, in which we seen head lag on traction or pull-to-sit maneuver, or the
feeling of ‘slipping through the hands’ when the infant is held under the arms.

3. PATHOLOGY:
Infantile botulism, transient neonatal myasthenia gravis, congenital myasthenia gravis,
hypermagnesemia, and aminoglycoside toxicity are all neuromuscular junction disorders that
are considered to be a differential diagnosis of floppy infant syndrome.
These neuromuscular junction disorders ultimately impact the presence of acetylcholine within
the neuromuscular junction.
While some of these disorders may impact the acetylcholine receptors, others may cause a
depletion within the end-plate anticholinesterase enzyme. A deficiency within the
anticholinesterase deficiency may cause desensitization to acetylcholine, which could also cause
present with floppy infant syndrome as well. Depending on the underlying causative disorder
leading to the presence of floppy infant syndrome, the treatment will vary considerably.
SYMPTOMS:
Floppiness/hypotonia:-it is defined as reduced resistance to passive movement of joints, and
clinically, floppy/hypotonic infants exhibit hypotoniaalong with motor developmental delay,
hyperextensibilityof joints.

4. CAUSES

6. INVESTIGATIONS FOR FLOPPY BABY
SYNDOME
Ultrasound scan
MRI for structural abnormality
EEG: if seizures suspected
Genetic test : finding
Genetics review if any dysmorphicfeatures present
Karyotype (if dysmorphicfeatures)
TORCH screen
DNA methylation studies
Neuroimaging : ncvtest

7. MANAGEMENT OF FLOPPY BABY SYNDROME
Supportive [respiratory, gastrointestinal] assistances
Once the correct diagnosis is confirmed, specific treatments should be offered if
available
Physiotherapy:Regular physiotherapy will prevent contractures.
Occupational therapy is important in facilitating activities of daily living.
Genetics counseling.

8. CHENNELOPTHY
Channelopathiesarediseases that develop because of defects in ion channelscaused by
either genetic or acquired factors. Mutations in genes encoding ion channels, which impair
channel function, are the most common cause of channelopathies.
A channelopathymay cause an abnormal gain of function (such as myokymia, myotonia,
and epilepsy) or an abnormal loss of function, (such as weakness or numbness) depending
on whether loss of channel function leads to excessive membrane excitability or to
membrane inexcitability.
Symptoms:
it can result in various heart symptoms, such aspalpitations, dizziness, fainting, loss of
consciousness, and in rare cases, even sudden death.
episodic muscle weakness/paralysis , difficulty in relaxing muscles(the muscle can feel stuck
or cramped) once they are contracted.

9. INVESTIGATION AND MANAGEMENT
Genetic testing:If a channelopathyis confirmed, people should have regular follow
up with ECGand ambulatory heart monitoring to look for asymptomatic heart rhythm
disturbances.
Management:
Exercise and Lifestyle Changes: regular exercise and making appropriate lifestyle
modifications can help manage symptoms and improve the overall quality of life for
individuals with channelopathies.
Occupational therapy
Psychological support

10. CRAMPS:
A cramp isa sudden, brief, unintended (involuntary), and usually painful contraction of a
muscle or group or muscles. Muscle cramps can be a symptom of nervous system dysfunction.
Causes:
Muscle cramps in adults often develop in neurological and neuromuscular disorders such
asmotor neuronedisease, radiculopathies and peripheral neuropathies.
Causes:
Dehydration : in which electrolyte loss disrupts neuromuscular junction function and
membrane stability.
Other physiologic stressors: include unusually prolonged or strenuous exercise, particularly
in a deconditioned state in which muscle tendon shortening is common.
Vitamin deficiencies, neurological dysfunction.

11. FEATURES, INVESTIGATION AND TREATMENT:
Feature: Muscle cramps range in intensity from a slight tic (twitching) to agonizing
pain.
A cramping muscle may feel hard to the touch and/or appear visibly distorted or
twitch beneath the skin.
A cramp can last a few seconds to 15 minutes or longer. It might recur multiple times
before it goes away.
Investigation: physical examine.: severe, or frequent. A practical approach is to
consider first whether cramps are neurogenic or myogenic.
Nerve conduction studies and needle EMG can be helpful in differentiating
neurogenic from myogenic cramps.
Blood glucose, renal function tests, and electrolyte levels, including calcium and
magnesium, should be measured if patients have diffuse cramps of unknown cause,
particularly if hyperreflexiais present.

12. Treatment:
Soaking in a hot bath or using a heating pad.
Hot water bottle or heat patch on your lower abdomen might ease menstrual
cramps. dietary supplements. vitamin E, omega-3 fatty acids, vitamin B-1 (thiamin),
vitamin B-6 and magnesium supplements might reduce menstrual cramps.
Calcium channel blockers:effective for cramps, and antiepileptic medications,
including carbamazepine, have been found helpful for cramp fasciculation syndrome.
Rehydration teraoy
Vitamnsupplement.