Presentation
Clearly presented in a tried and trusted, easy-to-use, format, each book in the series gives complete coverage of the subject in a no-nonsense, user-friendly fashion. [books.google.com]
The clinical presentation is that of progressive/relapsing and remitting muscle weakness present for more than 2 months, symmetrical proximal and distal extremity weakness and hyporeflexia. [neuroweb.us]
Acronym MPXPS Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. [oxfordmedicine.com]
Entire Body System
- Amyloidosis
In one third of cases CTS is associated with medical conditions such as; pregnancy, inflammatory arthritis, SLE, amyloidosis, hypothyroidism, acromegaly, diabetes mellitus (6%), long-term dialysis and use of corticosteroids and estrogens. [neuroweb.us]
Lyme, HIV); Inflammatory (CIDP, Guillain-Barre); metabolic (diabetes, porphyria); vascular (autoimmune arteritis); nutritional (vitamin B1 or B12 deficit or pyridoxine toxicity); heredity (Charcot-Marie-Tooth disease, etc); neoplasm; abnormal proteins (amyloidosis [dartmouth.edu]
Familial amyloidosis may resemble peroneal muscular atrophy, and can be recognized by sural nerve biopsy. 3. [intranet.tdmu.edu.ua]
- Hodgkin Lymphoma
Lymphomas in HIV patients are often necrotic and occasionally involve the cerebellum. Cholesterol granulomatosis (usually very bright T2 weighted image) at the petrous apex occasionally compress the cerebellum. [neurodiffdx.com]
Cases of GBS have been reported following surgery or trauma, pregnancy, connective tissue diseases, medications (d-penicillamine), swine influenza virus vaccination or with underlying Hodgkin lymphoma. [neuroweb.us]
Skin
- Sparse Hair
HAWKINSINURIA Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl-4-dihydroxycyclohex [pliem.co.za]
Neurologic
- Tremor
MalaCards based summary : Myopathy with Extrapyramidal Signs, is also known as proximal myopathy with extrapyramidal signs, and has symptoms including tremor and involuntary movements. [malacards.org]
Signs and symptoms are variable and include brief, repetitive, jerky and uncontrolled movements caused by muscle contractions (chorea), tremor, abnormal posturing, and involuntary repetitive movements of the mouth and face.[1] Other symptoms may include [rarediseases.info.nih.gov]
- Abnormal Gait
Other side effects include: persistent ventricular tachycardia, pneumonitis, bradycardia, abnormal hepatic function tests, nausea, abnormal gait, asthenia, constipation, cough, dizziness, dyspnea, fatigue, heart block, involuntary body movements, neurotoxicity [drugs.com]
Gait Abnormality Rating Scale [ 7 ] The Gait Abnormality Rating Scale (GARS) is a videotape-based analysis of 16 facets of human gait: the total score represents a rank ordering of risk for falling, based on the number of gait abnormalities recognised [patient.info]
- Tremulousness
However, following abrupt cessation of high-dose therapy, gastritis, nausea, vomiting, dizziness, tremulousness and motor hyperactivity have been reported. [mentalhealth.com]
[…] orthostatic tachycardia syndrome (POTS) and mild peripheral neuropathy have been noted. 113 An operational definition of POTS includes symptoms of orthostatic intolerance, such as fatigue, light-headedness, nausea, vomiting, headache, palpitations, and tremulousness [pediatrics.aappublications.org]
- Neglect
If there is visual neglect, then the patient tends to bisect the lines to the right of the true center mark, and may ignore the lines on the left-hand side of the sheet. [casemed.case.edu]
- Action Tremor
A coarse, irregular action tremor, often seen in paraproteinemic neuropathy, may occur and may be related to a CNS equivalent mimicking neuroradiologically MS. [neuroweb.us]
Workup
Workup - other ECG Malabsorption workup Karyotyping and family screening 26. Treatment of Hypocalcemia 27. [slideshare.net]
Aspartate aminotransferase levels Other studies may include the following: Electrocardiography Antinuclear antibody levels Genetic testing Electromyography Magnetic resonance imaging (to assess complications or rule out neurologic disease) Muscle biopsy See Workup [emedicine.medscape.com]
Biopsy
- Liver Biopsy
The absence of AGT activity can be confirmed by liver biopsy. [pliem.co.za]
Biopsy is not typical. [neuroweb.us]
Treatment
More Symptoms of Myopathy with extrapyramidal signs » Treatments See also the following treatment articles: Treatments for Myopathy Causes See also causal information: Causes of Myopathy Similar Topic Articles Myopathy Extrapyramidal signs Names and Terminology [familydiagnosis.com]
Acute and preventive pharmacologic treatment of cluster headache. Neurology 2010, 75 ( 5 ):463-73. CrossRef PubMed Google Scholar 24. [link.springer.com]
[…] for which specific treatments are available. [mentalhealth.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Prognosis
Prognosis of MELAS syndrome is poor. [pliem.co.za]
The prognosis is most favorable when the onset of symptoms occurs after the second decade of life. [intranet.tdmu.edu.ua]
A poor prognosis for patients has been suggested if there are infratentorial lesions early in the course of the illness (particularly the MCP). Acute disseminated encephalomyelitis frequently evolves into MS. [neurodiffdx.com]
This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS. [emedicine.medscape.com]
For patients with CIPA/HSAN type IV, the prognosis for independent function depends on the ability to manage secondary clinical problems, especially the orthopedic issues. [pediatrics.aappublications.org]
Etiology
These conditions have widely varying etiologies, including congenital or inherited, idiopathic, infectious, metabolic, inflammatory, endocrine, and drug-induced or toxic. [emedicine.medscape.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Etiology and Pathology The etiology is unknown. [intranet.tdmu.edu.ua]
Muscle disease often results in an increase in creatine kinase levels in the blood, although this is quite nonspecific in terms of etiologic diagnosis. [dartmouth.edu]
Epidemiology
Patient Population: Prevalence and Epidemiology Knee // Shoulder & Elbow // Hip // Spine // Foot & Ankle // Hand & Wrist Fragility Fractures: Diagnosis and Treatment Shoulder & Elbow The Characteristics of Surgeons Performing Total Shoulder Arthroplasty [mdedge.com]
Vågå study of headache epidemiology. Cephalalgia 2003, 23 ( 7 ):528–533. CrossRef PubMed Google Scholar 5. Russell MB: Epidemiology and genetics of cluster headache. Lancet Neurol 2004, 3 ( 5 ):279–283. CrossRef PubMed Google Scholar 6. [link.springer.com]
At first considered a rare condition, it is now recognized as one of the most frequent dementing disorders, second in incidence only to Alzheimer disease in most hospital-based epidemiological studies. [usmle.net]
Epidemiologic data suggest that smoking may be an established risk factor for sporadic ALS. [8] The peak age of onset is between 55 and 75 years. [emedicine.medscape.com]
Epidemiology The prevalence of PD is 133 per 100 000 people. This disease is considered to be one of the most common ones among old people after dementia, epilepsy, cerebral vascular diseases. The beginning of the disease is at the age of 55. [intranet.tdmu.edu.ua]
Pathophysiology
The output is generated by the deep cerebellar nuclei and … [PDF][PDF] Disorders of the cerebellum and its connections CM Fredericks - Fredericks CM, Saladin LK. eds: Pathophysiology …, 1996 - deardegree.com The cerebellum, which lies just dorsal to the [scholar.google.it]
Pathophysiology Ionized calcium is affected by: Albumin Blood pH Serum phosphate Serum magnesium Serum bicarbonate Exogenous factors Citrate / free fatty acids (TPN) 5. [slideshare.net]
Involvement of the autonomic nervous system in the pathophysiology of Rett syndrome. Eur Child Adolesc Psychiatry. 1997 ; 6(suppl 1) : 42 – 45 ↵ Weese-Mayer DE, Boothby CM, Lieske SP, et al. [pediatrics.aappublications.org]
Pathophysiology of weakness in a patient with congenital end-plate acetylcholinesterase deficiency. Muscle Nerve 20 02; 25(4): 585 - 592 3. Hanada S, Kumashiro R, Kaji R, Harada M, Sata M. [neuro-tokushima.com]
Whereas the pathophysiology of muscular dystrophy 3 and the core myopathies 4 involves abnormal mitochondrial Ca 2+ handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca 2+ signaling, demonstrating [nature.com]
Prevention
Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. [books.google.es]
We consider verapamil and lithium to be first-line preventives for chronic CH, although the trial evidence is at best Class II. [link.springer.com]
MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake: acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening; enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria [flybase.org]
Unfortunately, there are no preventive or curative measures for the disease to date. Dietary restriction is beneficial, but compliance is often limited. [pliem.co.za]
Patients require aids to maintain ambulation and prevent falling. [intranet.tdmu.edu.ua]