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Physical Exam Vitals: T- 103.2F P- 165 R- 30 SaO2- 98% on room air Growth: Wt- 5.8kg (70th %) Length- 60cm (75th %) HC- 40.cm (50th %)
General: Patient is awake, but appears somewhat sleepy being held by mom.
Head: atraumatic, normocephalic; soft anterior fontanelle; no meningeal signs.
Eyes: PEERLA, EOM intact, gross visual fields full to confrontation, no icterus, no discharge, no conjunctivitis.
Ears: no discharge, tympanic membranes without erythema with good cone of light bilaterally.
Nose: no discharge, moist nasal mucosa, no obstruction, septum not deviated.
Throat: moist oral mucosa, mild erythema to oropharynx, no exudates, uvula midline, normal gag reflex.
Neck: no lymphadenopathy, no nuchal rigidity noted, no masses.
CV: RRR, S1/S2, no murmurs, gallops or rubs noted; no thrills or heaves palpated. Femoral pulses 2+ with cap refill <2 seconds, pulses: carotid, brachial, radial, femoral- bilaterally 2+
Resp: clear to auscultation bilaterally; no wheezes, crackles, or rhonchi noted; no retractions, no coughing, no secretions.
Abd/GI: soft, nontender, nondistended; bowel sounds present; no hepatosplenomegaly; no masses. No CVAT or suprapubic tenderness to palpation. Patient has a large, loose stool that is yellow-green-brown in color. There was no blood or mucus in the stool.
GU: normal appearing external genitalia, no lesions, rashes or discharge; Tanner stage 1; urinating normal.
Ext: warm, symmetric tone, muscle development and strength
Neuro: no atrophy; moves all extremities equally; reflexes 2+ at patella, ankle, and biceps bilaterally; Moro reflex intact and symmetric; rooting reflex intact and symmetric; tonic neck reflex intact and symmetric
Skin: moist; without rash or erythema
Vital Sign: Record vital signs which include temperature, pulse, respiratory rate, and blood pressure (arm or legs). Weight, height, and head circumference should be measured, preferably using the metric system, and should include percentiles. Record O2 saturations and the amount of oxygen delivered if appropriate.
General Appearance: For example any obvious deformities, size appropriate for age, respiratory distress or pain, and hydration and general nutrition status.
Head: Normal or abnormal faces and normal or abnormal cephalic. Fontanelle size if open (are they normal, sunken or bulging)
Eyes: Include all positive findings on eye examination and include ptosis, sclera, conjunctiva, strabismus, photophobia, and funduscopic exam.
Ears: Hearing, discharge, tympanic membrane appearance.
Nose: Air movement, mucosa, septum, turbinate appearance,
Throat: teeth-number and caries, gum – color and hypertrophy, epiglottis – appearance, tonsils – size and appearance, check for cleft palate/cleft lip?
Neck: Flexibility, masses. Thyroid – size.
Lymph Nodes: If abnormal size or texture record location, consistency, tenderness, size in centimeters.
Abdomen:
Inspection, contour, umbilicus, distention, veins, visible peristalsis, hernia.
Percussion: fluid wave, shifting dullness, tympani, liver size, spleen size, CVA tenderness, abnormal masses.
Palpation: tenderness, rebound, guarding, masses.
Genitalia:
Record Tanner Stage
Male: circumcised, testes – appearance and size, hydrocele – presence hernia.
Female: external genitalia, appearance of vulva, clitoris, hymen.
Or ambiguous genitalia?
Breasts: Tanner Stage
Rectal: Fissures, hemorrhoids, prolapse, sphincter tone, stool in ampulla, abnormal masses.
Skin: Texture, color, turgor, temperature, moisture, icterus, cyanosis, eruptions, lesions, scars, ecchymoses, petechiae, spider nevi, desquamation, hemangioma, Mongolian spots, nevi.
Extremities: Tone, color, warmth, clubbing, cyanosis, mobility, Ortalani and Barlows maneuvers in newborns and infants, deformities, joint swelling or tenderness.
Spine: Scoliosis, mobility, tenderness.
Neurologic:
Mental status: affect, level of consciousness, speech, GCS score.
Motor: gait, stances, muscle power, tone, tics, ataxia.
Cranial nerves: testing 1-12
Deep tendon reflexes: 2+ is average when recording.
– Record if Babinski present.
– Infants, for example grasp, suck, moro, rooting, stepping, placing.
Abnormal sensory findings.
Meningeal signs
Thorax: Appearance and contour, respiratory rate and effort, regularity of breathing, symmetrical chest movement, character of respirations such as retractions.
Cardiovascular:
Inspection, precordial bulge, apical heave, auscultation, rhythm, character and quality of sounds.
Palpation: PMI, thrills, heaves.
Auscultation: quality and intensity of heart sounds, murmurs, for example, timing, duration, intensity, location, radiation
Pulses: radial and femoral pulses, rate and rhythm.
The purpose of this paper is to write about our experience with a patient in the clinic setting. This experience concerns the primary diagnosis of congenital myotonic muscular dystrophy disease and other diagnoses of respiratory failure with hypoxia, undescended testicle, gastroesophageal reflux disease, and dependence on respirator Apnea, the minor diagnosis of the patient (Yi et al., 2016). This paper will contain much information on the diagnosis of Congenital Myotonic Muscular Dystrophy.
A muscular dystrophy is a group of disorders that produce persistent muscle weakness. There are more than 30 different types of muscular dystrophy. It is common for the illness to spread in families. Muscular dystrophy can be present at birth or develop during childhood or maturity, based on the kind. Muscles atrophy and weaken over time, reducing your ability to move and accomplish everyday tasks such as cleaning your teeth. Your lungs and heart may also be affected by the condition (Mohassel et al., 2018). Varied types have different effects on different muscles. Treatment options are beneficial; however, there is no cure. The disease often runs in families. A child with a parent with this illness may inherit a changed or mutated gene that causes it. Several individuals have the altered gene but do not have the condition. The gene can be passed to their child from healthy adults with carriers who may develop the disease.
Congenital refers to something present at birth. Males and females alike are affected by congenital muscular dystrophies, which proceed progressively. Fukuyama and congenital muscular dystrophy with myosin deficiency are two types of congenital muscular dystrophy that induce muscle weakness during infancy and the first few days of life, and severe and premature deformities, such as shrinking or shortening muscles cause joint problems. Fukuyama congenital muscular dystrophy is a type of congenital muscular dystrophy that causes psychological problems and, in some cases, seizures. Genetic abnormalities or alterations cause the majority of congenital muscular dystrophies. Even if neither parent has the illness, one or both parents may convey a defective gene to their child. Muscular dystrophy can occur without warning, which means there is no known cause (Mah et al., 2016).
Males and females are equally affected by CMD. CMD’s actual incidence is unclear. The frequency is estimated to be 1 in 125,000 in an Italian population, according to one assessment. In western Sweden, the incidence was estimated to be 1 in 16,000, according to another research. These results, nevertheless, may or may not be relevant in many other places around the world. In the United States, roughly 250,000 people are considered to be affected by muscular dystrophies. Specific types of CMD are more common in certain places of the world. Fukuyama CMD is nearly only found in Japan Fauroux et al., 2016). Finland has the highest incidence of MEB. MDC1A is thought to be among the most frequent type of CMD.
Between the ages of birth and two, congenital muscular dystrophies are frequently visible. This age is when parents observe that their kid’s cognitive abilities and motor coordination are still not progressing as they should. Muscle weakness, poor motor control, inability to sit or stand without assistance, scoliosis, foot abnormalities, difficulty swallowing, respiratory issues, vision problems, speech problems, and intellectual impairment are some symptoms. Although these signs of congenital muscular dystrophy range from moderate to severe, the number of cases with the condition are often unable to sit or stand without assistance (Mohassel et al., 2018). The life expectancy of somebody with this condition varies based on the indications. Some persons with congenital muscular dystrophy die while young, whereas others endure until they are adults.
For any of the congenital muscular dystrophies, no particular treatment is effective. To maintain muscular activity, increase cognitive functioning, and extend the patient’s average lifespan, comprehensive continuous care is required. Children with chronic illnesses like Walker-Warburg syndrome frequently die in their first few decades of existence (Mah et al., 2016). Individuals with congenital muscular dystrophy due to a lack of laminin-2 or mutations in the FKRP gene can live perfectly everyday life.
| Drug | Classification | Usage | Pediatric Dosage Range | Side Effects | Nursing Interventions & Considerations |
| Acetaminophen syrup | Analgesics (pain relievers) and antipyretics (fever reducers) | Needed for pain score 1-3 | 160mg/5ml.Give 5ml via GT every 4 hours | Worsening or new symptoms, redness or swelling, liver problems (stomach pain, tiredness, dark urine) & an ongoing cough with a rash or headache. | 1. Acetaminophen is only meant for short-term use and should not be administered for more than 4 to 5 days without consulting a doctor.
2. Severe liver damage can take many days to manifest following an overdose. – Diagnostic testing should be used to confirm it. |
| Albuterol Sulfate HFA Aerosol solution | Bronchodilators | Respiratory distress.
|
108 (90base) mcg/act 2 puffs via trach every 6 hours
|
Sore throat, nausea, hoarseness, headache and dizziness. | Use low doses for short periods; long-term use can lead to drug tolerance.
– A physician should monitor patient potassium levels. |
| Albuterol Sulfate nebulizer solution | Bronchodilators | It is needed for bronchodilation via nebulizer or IPV.
|
2.5mg/3ml 0.083% 3ml via trach every 2 hours | Headache, muscle aches, throat or nasal irritation, shakiness or nervousness and rapid heart rate | Do not exceed the permissible dose; employ pressured inhalation medication forms during the second quarter of intake when the airways are more comprehensive, and the aerosol dispersal is greater.
– Diagnostic testing should be used to confirm it. |
| Famotidine | H2 Blockers | For GERD Pepcid | 2 times a day for GERD Pepcid(40mg/5ml) to give 4mg=0.5ml
|
Fatigue, headache, diarrhoea, weakness, joint pain and dizziness | If you’re only taking one dose per day, take it before nigh
– In children with gastrointestinal (GI) bleed, the complete blood count (CBC), stomach pH, and occult blood must be examined. |
| Acetaminophen syrup | Analgesics (pain relievers) and antipyretics (fever reducers) | 160mg/5ml via GT for the temperature of 38C or higher. Give 160mg=5ml, max dose 5 in 24 hours.
|
Clay-coloured stools, headache, stomach pain, itching, rash and loss of appetite | Several analgesics use raises the danger of toxicity and overdose.
– Examine possible lactate levels, blood gas, and metabolic panel testing. |
|
| Ibuprofen suspension | Nonsteroidal anti-inflammatory drugs (NSAIDs) | PRN for pain score of 4-6 | 100mg/5ml. Give 7.5 ml via GT every 6 hours PRN for pain score of 4-6, Give 150mg =7.5ml, max dose: 4 in 24 hours | Dizziness, Insomnia, anxiety, headache. | If you experience eye abnormalities, hepatic impairment signs, or renal impairment, stop taking the medication.
– Keep a close eye on your blood pressure while using ibuprofen. |
| Polyethene glycol | Osmotic Laxatives | For bowel regulation | (17gm/25ml) Give 7.5 ml via GT 1 time per day. Give 5.1g=7.5ml (12/30/20) mix in 15ml water and give with feedings. Hold if the patient has >4 BMs in 24 hours
|
Irritation of the rectum, nausea, vomiting, abdominal bloating and sleep disorder | At the prescribed 17-gram dose, there was a greater incidence of diarrhoea in geriatric nursing home patients.
– Examine a blockage in the gastrointestinal tract as well as a sluggish bowel movement. |
| Nutren Jr + fiber+ protein+water | @ 260 ml/hr every 4 hours (6 feeds)via G-tube. Recipe: 1150ml | Increased bowel movement, thirst, headache, nausea and reduced appetite | designed to satisfy nutritional requirements
– Blood levels of concurrent medications with a restricted therapeutic range should be monitored. |
||
| Nutren Jr.+fiber+2 tbsp protein | 530ml water=1680ml | Increased bowel movement, thirst, headache, nausea and reduced appetite | designed to satisfy nutritional requirements
– Blood levels of concurrent medications with a restricted therapeutic range should be monitored. |
||
My patient’s chronologic age is four years old but has the cognition of an eight-month-old. The patients should have acquired cognitive skills between the ages of 5 and 8 months, which is the awareness that something exists even if it is not visible. As per Piaget, when an item is taken from view, young newborns do not recall it. According to Erikson, trust is the foundation of our early growth (birth to 12 months). As a result, the major purpose of this phase is to establish trust rather than mistrust. Children are interested in starting activities and expressing control throughout their environment through interpersonal relationships and play when they are 3-6 years old. The patient may be capable of resolving the challenge of initiative vs guilt, according to Erikson. This diagnosis affected the patient physically, so that there were some progressions and intense muscle and joints. Cognitively, the patient has a good memory, improved language skills, good attention, reasoning and judgement. With the diagnosis, the patient is seen developmentally after the diagnosis and coping methods during the process. Monitor age-appropriate developmental engagement while evaluating the patient (Fauroux et al., 2016). The patient’s chronological age is simply a relative measure of their psychosocial, cognitive, and physical development stage. As distinct as each person is in the world, several common developmental patterns have been discovered as milestones in the natural path of life. To completely grasp the behavioral changes in the cognition, emotional, and psychomotor dimensions, it is imperative to understand the four milestones as the patient advances from infancy to maturity while coping with the teaching-learning procedure.
In conclusion, muscle biopsy reveals varying degrees of infection in CMDs. All individuals with muscular dystrophy, particularly those who appear with hypotonia and muscle weakness at conception even in the first couple months of life, must be evaluated for CMD. It is critical to be appropriate in different situations to avoid misdiagnosis as infantile polymyositis and its treatment and prognosis.
Fauroux, B., Amaddeo, A., Quijano-Roy, S., Barnerias, C., Desguerre, I., & Khirani, S. (2018). Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial. Neuromuscular Disorders, 28(9), 731-740.
https://pubmed.ncbi.nlm.nih.gov › …
Mah, J. K., Korngut, L., Fiest, K. M., Dykeman, J., Day, L. J., Pringsheim, T., & Jette, N. (2016). A systematic review and meta-analysis on the epidemiology of muscular dystrophies. Canadian Journal of Neurological Sciences, 43(1), 163-177.https://pubmed.ncbi.nlm.nih.gov/26786644/
Mohassel, P., Foley, A. R., & Bönnemann, C. G. (2018). Extracellular matrix-driven congenital muscular dystrophies. Matrix Biology, 71, 188-204.https://europepmc.org/article/med/29933045
Yis, U., Baydan, F., Karakaya, M., Hız Kurul, S., & Cirak, S. (2016). Importance of skin changes in the differential diagnosis of congenital muscular dystrophies. BioMed research international, 2016.https://pubmed.ncbi.nlm.nih.gov/27123443/
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