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FLOPPY INFANT SYNDROM,CHENNELOPATHY, CRAMP.pdf

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FLOPPY INFANT SYNDROME,CHENNELOPATHIES
AND CRAMPS
BY- KEERTI GOUR
MPT NEUROLOGY
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 hypotonia that could present as either peripheral hypotonia or 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.
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 hypotonia along with motor developmental delay,
hyperextensibility of joints.
CAUSES
FLOPPY INFANT SYNDROM,CHENNELOPATHY, CRAMP.pdf
INVESTIGATIONS FOR FLOPPY BABY
SYNDOME
Ultrasound scan
MRI for structural abnormality
EEG: if seizures suspected
Genetic test : finding
Genetics review if any dysmorphic features present
Karyotype (if dysmorphic features)
TORCH screen
DNA methylation studies
Neuroimaging : ncv test

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FLOPPY INFANT SYNDROM,CHENNELOPATHY, CRAMP.pdf

  • 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 hypotonia that could present as either peripheral hypotonia or 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 hypotonia along with motor developmental delay, hyperextensibility of joints.
  • 6. INVESTIGATIONS FOR FLOPPY BABY SYNDOME Ultrasound scan MRI for structural abnormality EEG: if seizures suspected Genetic test : finding Genetics review if any dysmorphic features present Karyotype (if dysmorphic features) TORCH screen DNA methylation studies Neuroimaging : ncv test
  • 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 Channelopathies are diseases that develop because of defects in ion channels caused by either genetic or acquired factors. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. A channelopathy may 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 as palpitations, 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 channelopathy is confirmed, people should have regular follow up with ECG and 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 is a 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 as motor neurone disease, 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 hyperreflexia is 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 Vitamn supplement.