Appendicular hypertonia was present in both. Pt 2’s brain MRI was normal; Pt 1’s brain MRI showed corpus callosum thinning, enlarged CSF fluid spaces, and delayed myelination. [pediatricneurologybriefs.com]

Group B : Loss of multiple peroxisome functions (peroxisomes present) – Rhizomelic chondrodysplasia punctata, Zellwegerlike syndrome. [fetalultrasound.com]

Water Intoxication Clinical S&S: [1] Water intoxication presents with symptoms that are largely neurologic due to the shifting of water into brain tissues and resultant dilution of sodium in the vascular space. [physio-pedia.com]

Key Features: Presents state-of-the-art information about current indications for all four FDA-approved botulinum neurotoxins Compares and contrasts the four toxins along with common and emerging clinical applications Provides dosing guidelines for various [books.google.de]

Presenting symptoms include constipation, lethargy, a weak cry, poor feeding and dehydration. [aafp.org]

• Weakness

  Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. [mendelian.co]

  Atrophy and weakness of facial muscles, ptosis, and frontal baldness produce a characteristic facial appearance. [neuropathology-web.org]

  Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia. [umdf.org]

  For the time being, treatment is aimed at preventing complications due to the effects of weakness, decreased mobility, contractures, scoliosis, heart defects, and respiratory weakness. [medicalmarijuana.com]

  Congenital myasthenic syndromes are nonimmune mediated disorders of neuromuscular transmission characterized by weakness, fatigability, and progressive muscle atrophy. [ommbid.mhmedical.com]

• Fever

  […] sight reaction (including phlebitis) Pyrexia Orthostatic hypotension Tolvaptan [8] Vasopressin V2 receptor antagonist Increase low levels of sodium in the blood Increases amount of water released in urine raising soium levels in blood Thirst Dry mouth Fever [physio-pedia.com]

  Click Here to download this mito profile (PDF) Links: NINDS OMIM, X-linked: OMIM, Adult-onset: OMIM Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and resting tachycardia. [umdf.org]

  […] the cerebral white matter Acidosis Retrognathia Encephalopathy Type 2 muscle fiber atrophy Spinal muscular atrophy Peripheral axonal neuropathy Fractures of the long bones Tapered finger Autoimmunity Respiratory tract infection Rigidity Heterogeneous Fever [mendelian.co]

  Sinus node dysfunction also can be caused by coronary artery disease, hypothyroidism, severe liver disease, hypothermia, typhoid fever or other conditions. It also can be the result of vasovagal hypertonia, an unusually active vagus nerve. [drugs.com]

  Tissue catabolism (massive cellular destruction)— high fever, burns, sepsis, major trauma. Metabolic acidosis. Hyperkalemia: Manifestations With mild elevations: leg cramps, muscle weakness, paresthesias. [quizlet.com]

• Short Stature

  People who have achondroplasia have abnormal bone growth that causes the following clinical symptoms: short stature with disproportionately short arms and legs, short fingers, a large head (macrocephaly) and specific facial features with a prominent forehead [genome.gov]

  Endocrine abnormalities including growth retardation, short stature, or diabetes may also be evident. KSS is a rare disorder. [umdf.org]

  Birth defects (dysmorphism) are rare in pontocerebellar hypoplasia, but deformities such as contractures and clubfoot and short stature have been reported. [rarediseases.org]

  stature SOURCES: SCTID UMLS OMIM ORPHANET More info about OROFACIODIGITAL SYNDROME VI; OFD6 Medium match PHELAN-MCDERMID SYNDROME; PHMDS Phelan-McDermid syndrome is a developmental disorder with variable features. [mendelian.co]

  A person may present with classic symptoms (i.e. a child with short stature, ptosis, and a cardiac arrhythmia may have Kearns Sayre syndrome; a teenager with a stroke-like episode, high lactic acid in blood, and a history of hearing loss and diabetes [childneurologyfoundation.org]

• Asymptomatic

  Even if asymptomatic, they often show mild elevation of CK and subtle changes in the muscle biopsy. DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells. [neuropathology-web.org]

  At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. [umdf.org]

• Poor Feeding

  Presenting symptoms include constipation, lethargy, a weak cry, poor feeding and dehydration. [aafp.org]

  Pontocerebellar Hypoplasia Type 6 (PCH type 6): PCH type 6 manifests as early as the first day of life or within the first month of life as infantile encephalopathy, with generalized hypotonia, lethargic, poor sucking and poor feeding. [rarediseases.org]

• Vomiting

  […] other psychological disorders Endocrine disorders Medications Drug Name Type of Drug Used For Side Effects Chlorothiazide [5] & Hydrochlorothiazide [6] Diuretic High BP and fluid retention Helps kidneys rid body of unneeded salts and water Diarrhea Vomiting [physio-pedia.com]

  Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting. Cause: Autosomal recessive. [umdf.org]

  Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. [mendelian.co]

  Excess Na+ loss from: -GI tract (vomiting, diarrhea, NG suctioning). -Renal losses (diuretics, adrenal insufficiency). -Skin losses (burns, wound drainage). [quizlet.com]

  […] pressure increased Respiratory, thoracic and mediastinal disorders Uncommon: Dyspnoea, rhinorrhoea, cough Rare: Yawning Not known: Respiratory depression Gastrointestinal disorders Common: Abdominal pain, constipation, diarrhoea, dry mouth, dyspepsia, vomiting [medicines.ie]

• Failure to Thrive

  Chromosome 16q deletion syndrome is mainly characterized by developmental delay, craniofacial anomalies, hypotonia, failure to thrive, feeding difficulties, mental retardation. [tmj.ro]

  […] to thrive Hypoplasia of the corpus callosum Strabismus Multiple prenatal fractures Pulmonary hypoplasia Easy fatigability Abnormality of the immune system Fatigable weakness Abnormal cortical gyration Axonal loss Weak cry Increased variability in muscle [mendelian.co]

  Symptoms: Encephalomyopathy and various manifestations, including failure to thrive, developmental delay, hyoptonia, lethargy, respiratory failure, ataxia, myoclonus. Lactic acidosis common. May cause Leigh Syndrome. [umdf.org]

  (inability to make digestive enzymes), parathyroid failure (low calcium/tetany), failure to thrive, short stature Blood: bone marrow failure Inner ear: sensorineural hearing loss GI tract: dysmotility, GERD, constipation, diarrhea, pseudo-obstruction [childneurologyfoundation.org]

• Nausea

  Behavioral changes Bladder dysfunction Mild peripheral neuropathy Weight loss Nausea What are the treatments for AMN? One of the possible symptoms of patients with AMN is adrenal insufficiency. [ulf.org]

  […] increased Respiratory, thoracic and mediastinal disorders Uncommon: Dyspnoea, rhinorrhoea, cough Rare: Yawning Not known: Respiratory depression Gastrointestinal disorders Common: Abdominal pain, constipation, diarrhoea, dry mouth, dyspepsia, vomiting, nausea [medicines.ie]

  Early symptoms can, paradoxically, resemble heat stroke, and include headache, diarrhea, nausea, cramping, and vomiting. In cases where water intake greatly exceeds the kidney's processing abilities, M. [io9.gizmodo.com]

  Agenesis of cerebellar vermis Poor suck Joint contracture of the hand Camptodactyly Developmental regression Brainstem dysplasia Aplasia/Hypoplasia of the cerebellar vermis Renal corticomedullary cysts Dilated fourth ventricle Tubulointerstitial fibrosis Nausea [mendelian.co]

  […] including phlebitis) Pyrexia Orthostatic hypotension Tolvaptan [8] Vasopressin V2 receptor antagonist Increase low levels of sodium in the blood Increases amount of water released in urine raising soium levels in blood Thirst Dry mouth Fever Constipation Nausea [physio-pedia.com]

• Muscle Rigidity

  Spasm of the masseter muscle is often first noted. There is muscular rigidity despite a paralysing agent. If breathing is still spontaneous there is tachypnoea. There is tachycardia and the skin is flushed. [patient.info]

  rigidity) and hypotonia (muscle limpness) high-pitched cry Signs of intermediate and thiamine-response MSUD include: seizures neurological deficiencies developmental delays feeding problems poor growth a distinctive maple sugar odor in earwax, sweat, [healthline.com]

• Jaundice

  Brain and spinal cord injury that may include bleeding into the brain Serious infections of the brain and its parts like meningitis or encephalitis Kernicterus – This condition is severe affliction of the brain of the new born with bilirubin from the jaundice [news-medical.net]

  […] the genital system Oxycephaly Hearing impairment Abnormality of neuronal migration Hepatic failure Foot polydactyly Pain Nevus Failure to thrive Depressed nasal bridge Cardiomegaly Enlarged kidney Large fontanelles Hamartoma Abnormal heart morphology Jaundice [mendelian.co]

• Hearing Impairment

  impairment Highly arched eyebrow Intellectual disability, mild Atrial septal defect Ventricular septal defect Tics Biparietal narrowing Postaxial polydactyly Molar tooth sign on MRI Cognitive impairment Tachypnea Hand polydactyly Intellectual disability [mendelian.co]

  migraine, hypertonia, involuntary muscle contractions, hypoaesthesia, abnormal coordination Not known: Hyperalgesia Ear and labyrinth disorders Uncommon: Hearing impaired Vascular disorders Uncommon: Vasodilation Respiratory, thoracic and mediastinal [medicines.ie]

• Visual Impairment

  Intellectual disability and cerebellar signs of visual impairment, nystagmus and ataxia follow the initial presentation. [rarediseases.org]

  […] somnolence Uncommon: Convulsions (particularly in persons with epileptic disorder or predisposition to convulsions), disturbance in attention, dysgeusia, speech disorder, syncope, tremor, lethargy Not known: Paraesthesia, sedation Eye disorders Uncommon: Visual [medicines.ie]

  Hepatic fibrosis Hyporeflexia Dandy-Walker malformation Epiphyseal stippling Intrahepatic biliary dysgenesis Brushfield spots Motor delay Short stature Abnormality of the mitochondrion Abnormality of the helix Hypoplasia of the thymus Visual impairment [mendelian.co]

• Muscle Weakness

  Micrognathia Distal arthrogryposis Oral-pharyngeal dysphagia Autosomal dominant inheritance Feeding difficulties Proximal muscle weakness Respiratory insufficiency due to muscle weakness Generalized muscle weakness Premature birth Facial palsy Ophthalmoplegia [mendelian.co]

  Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia. [umdf.org]

  It has also been found that some patients with PCH type 1 develop the signs of muscle weakness or developmental delay at the age of several months. These late presenting patients have a milder form and may live up to four years. [rarediseases.org]

  There may be weakness and increased fatigue. Babies with mothers who have myasthenia gravis may be born with hypotonia. Muscular dystrophy is a progressive muscle disease that leads to weakening of muscles and disability. [news-medical.net]

  MUSCULAR DYSTROPHY (MD) Muscular dystrophy is a group of inherited disorders that involve muscle weakness and loss of muscle tissue, which get worse over time. [medicalmarijuana.com]

• Muscle Spasticity

  One of the most common symptoms of cerebral palsy is muscle stiffness and resulting spastic movements. [cerebralpalsyguidance.com]

  Different patterns of muscle weakness or hyperactivity can occur based on the location of the lesion, causing a multitude of neurological symptoms, including spasticity, rigidity, or dystonia. [3] Spastic hypertonia involves uncontrollable muscle spasms [en.wikipedia.org]

• Muscle Hypotonia

  Defects may lie at the level of the muscles. Types of hypotonia Hypotonia may be seen at birth or later. At birth it is termed congenital hypotonia and it seen later it is called acquired hypotonia. [news-medical.net]

• Hyperreflexia

  When there are problems with the lower limbs, such as hyperreflexia, clonus or central hypopnea, then surgery called suboccipital decompression is performed to decrease pressure on the brain. [genome.gov]

  Mendelian Learn more Other signs and symptoms that you may find interesting Rod-cone dystrophy and Thick vermilion border, related diseases and genetic alterations Intellectual disability, severe and Infertility, related diseases and genetic alterations Hyperreflexia [mendelian.co]

  She showed hypertonia, hyperreflexia and foot clonus, but no developmental milestones. She died of pneumonia at the age of 1 year and 9 months. [nature.com]

• Clonus

  When there are problems with the lower limbs, such as hyperreflexia, clonus or central hypopnea, then surgery called suboccipital decompression is performed to decrease pressure on the brain. [genome.gov]

  She showed hypertonia, hyperreflexia and foot clonus, but no developmental milestones. She died of pneumonia at the age of 1 year and 9 months. [nature.com]

  The muscle tendon reflexes were generally increased with left-sided ankle clonus and a right-sided Babinski’s sign. There were no involuntary movements or signs of ataxia. He had no seizures and EEG was normal. [ojrd.biomedcentral.com]

• Areflexia

  OMIM UMLS More info about NEMALINE MYOPATHY 10; NEM10 Medium match NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE; CHN Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia [mendelian.co]

• Asthenia

  […] spasms, muscle twitching, myalgia Renal and urinary disorders Uncommon: Micturition urgency Not known: Urinary retention Reproductive system and breast disorders Not known: Erectile dysfunction General disorders and administration site conditions Common: Asthenia [medicines.ie]

  Hypoplasia of the corpus callosum Strabismus Multiple prenatal fractures Pulmonary hypoplasia Easy fatigability Abnormality of the immune system Fatigable weakness Abnormal cortical gyration Axonal loss Weak cry Increased variability in muscle fiber diameter Asthenia [mendelian.co]

• Babinski Sign

  The muscle tendon reflexes were generally increased with left-sided ankle clonus and a right-sided Babinski’s sign. There were no involuntary movements or signs of ataxia. He had no seizures and EEG was normal. [ojrd.biomedcentral.com]

He is also director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center. [books.google.com]

More Symptoms of Gaucher disease perinatal lethal » Genetics of Gaucher disease perinatal lethal Diagnosis See also related information on diagnosis: Diagnosis of Gaucher Disease Treatments See also the following treatment articles: Treatments for Gaucher [familydiagnosis.com]

If your infant is diagnosed with MSUD, prompt medical treatment can avoid serious medical problems and intellectual disability. Initial treatment involves reducing the levels of BCAAs in your baby’s blood. [healthline.com]

Treatment of hypotonia Treatment plan involves managing the underlying cause. Premature babies who are born with hypotonia may sometimes grow out of it by themselves. Those with infections may be treated accordingly. [news-medical.net]

The prognosis for ventricular fibrillation is grave, and death follows quickly without emergency treatment. Most atrial arrhythmias have an excellent prognosis. The outlook is good for heart block, even third-degree A-V block, the most serious type. [drugs.com]

AMN with cerebral involvement Those AMN patients with cerebral involvement have a poorer prognosis than those without cerebral involvement. [ulf.org]

The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. [umdf.org]

PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example). [childneurologyfoundation.org]

Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder). [medicalmarijuana.com]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

However, they can also be used in other medical conditions such as diabetes, CHF, MI, severe burns, and overhydration. [14] - BUN decreases with overhydration [10] - Normal adult value: 10-20 mg/dl [10] Etiology/Causes Due to the etiologic complex, symptoms [physio-pedia.com]

Further documentation of phenotypic abnormalities in subjects with chromosomal aberrations is needed in order to understand the relationship between them and the etiology as well. REFERENCES 1. [tmj.ro]

Epidemiology The incidence of MH is low, but the prevalence can be estimated as up to 1:3,000. [ 1 ] It is inherited as an autosomal dominant gene of variable penetrance. [ 6 ] As may be expected with any familial condition, there are geographical clusters [patient.info]

Botulism in the United States: a clinical and epidemiologic review. Ann Intern Med. 1998;129:221–8. ... 2. Schreiner MS, Field E, Ruddy R. Infant botulism: a review of 12 years' experience at the Children's Hospital of Philadelphia. [aafp.org]

He has since completed further training in emergency medicine, clinical toxicology, clinical epidemiology and health professional education. [lifeinthefastlane.com]

The incidence is unknown, although the epidemiological studies of the MELAS-3243 mtDNA mutation have estimated the prevalence to be 1-16/100,000 in the adult population. There is no cure or specific treatment for MELAS. [umdf.org]

"Spastic Hypertonia and Movement Disorders: Pathophysiology, Clinical Presentation, and Quantification". PM&R. 1 (9): 827–33. doi : 10.1016/j.pmrj.2009.08.002. PMID 19769916. ^ Bakheit, AM; Fheodoroff, K; Molteni, F (2011). [en.wikipedia.org]

Other agents such as desflurane, sevoflurane, and isoflurane can cause florid malignant hyperthermia (MH) reactions in the same way as halothane but are also associated with reactions with the onset delayed for several hours into anaesthesia. [ 3 ] Pathophysiology [patient.info]

Physician awareness of infant botulism is paramount to early recognition and intervention, because more than 70 percent of these infants will eventually require mechanical ventilation. 2 Pathophysiology Infant botulism occurs when ingested spores germinate [aafp.org]

Identifying the presence of MSUD at birth is critical to preventing long-term damage. [healthline.com]

Ventricular fibrillation resulting from electrical shock can be prevented by following routine safety precautions around live wires and by seeking shelter during electrical storms. Not all cardiac arrhythmias can be prevented. [drugs.com]

Prevention: Genetic counseling is advised when there is a family history of muscular dystrophy. Women may have no symptoms but still carry the gene for the disorder. [medicalmarijuana.com]

[…] daily fluid consumption by measuring out how much fluid you drink throughout the day Managing edema: [17] [18] Avoid constricting vessels to prevent venous pooling (don’t cross legs, wear tight clothing, etc.) [physio-pedia.com]

Force K+ from ECF to the ICF—IV insulin and glucose (insulin carries K+ into cells while glucose prevents hypoglycemia secondary to insulin administration). Calcium gluconate (prevents cardiac irritability, but does not ↓ K+). [quizlet.com]