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Proximal Myopathy with Extrapyramidal Signs


Presentation

  • 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]
  • Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy.[oxfordmedicine.com]
  • Many disorders present with prominent neurologic (central, peripheral, and autonomic) as well as myopathic features.[neupsykey.com]
  • This may present with some difficulty in diagosis, particularly when the proximal limb-girdle musculature is the sole site of presentation.[intranet.tdmu.edu.ua]
  • A Schwannoma presents with tinnitus and hearing loss. Meningiomas often compress the Vth nerve and present with facial pain.[neurodiffdx.com]
Fatigue
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
  • Fatigue Fatigue can be a nightmare; it is rarely used in the medical sense of an excessive failure of strength on repeated contraction. Patients with myasthenia usually, if allowed, describe this well.[jnnp.bmj.com]
  • Complaints of "fatigue" may result from such diverse processes as sleep disorders or chronic fatigue and fibromyalgia syndrome.[dartmouth.edu]
  • Markers of inflammation and immune activation in chronic fatigue and chronic fatigue syndrome. J Rheumatol. 1997 ; 24 : 372 – 376 Clements GB, McGarry F, Nairn C, Galbraith DN.[pediatrics.aappublications.org]
  • General signs and symptoms of myopathy include the following: Symmetric proximal muscle weakness Malaise, fatigue Dark-colored urine (suggests myoglobinuria) and/or fever Absence of sensory complaints or paresthesias; however, deep tendon reflexes (DTRs[emedicine.medscape.com]
Pathologist
  • The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening.[books.google.com]
  • Further diagnostic evaluation must involve close collaboration between clinicians, pathologists, and neurophysiologists. KEY REFERENCES Reilly MM , Hanna MG. Genetic neuromuscular disease.[jnnp.bmj.com]
  • Finally, while the mass most likely is a dermoid, this is not certain without pathologic diagnosis and, therefore, the cyst should be removed and evaluated by a pathologist.[usmle.net]
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]
Chronic Fatigue Syndrome
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
  • The chronic fatigue syndrome: a comprehensive approach to its definition and study. International Chronic Fatigue Syndrome Study Group. Ann Intern Med. 1994 ; 121 : 953 – 959 Carter BD, Edwards JF, Kronenberger WG, et al.[pediatrics.aappublications.org]
Hodgkin Lymphoma
  • lymphoma Cerebellar degeneration Cytoplasm of neurons; Purkinje cell dendrites Anti-Ma Testicular germ cell tumors primarily Limbic, brainstem encephalitis, and cerebellar degeneration Nuclear and cytoplasmic antigens (37, 40 kDa) Anti-CV2 Encephalomyelitis[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]
Labored Breathing
  • breathing difficult urination dry cough eye pain fast heartbeat general body swelling high fever holding false beliefs that cannot be change by facts hostility inability to have or keep an erection indigestion irregular, fast or slow, or shallow breathing[drugs.com]
Sneezing
  • […] pale skin pinpoint red spots on the skin rapid weight gain red skin lesions, often with a purple center red, irritated eyes red, swollen skin scaly skin seeing, hearing, or feeling things that are not there seizures severe headache severe sleepiness sneezing[drugs.com]
Carpopedal Spasm
  • Trousseau sign: (very uncomfortable and painful)  A blood pressure cuff is inflated to a pressure above the patients systolic  Pressure is continued for several  Carpopedal spasm: * flexion at the wrist * flexion at the MP joints * extension of the[slideshare.net]
Chvostek Sign
  • Symptoms and signs of hypocalcemia  Neuromuscular irritability  Paresthesias  Laryngospasm / Bronchospasm  Tetany  Seizures  Chvostek sign  Trousseau sign  Prolonged QTc time on ECG 12.  Tetany is not caused by increased excitability of the muscles[slideshare.net]
Peripheral Neuropathy
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
  • August 01, 1974 ; 24 (8) Article Rare case of myasthenia associated with peripheral neuropathy and spastic paraparesis JOHN C.M. BRUST , THEODORE A. LIST , LOUIS W.[neurology.org]
  • Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy.[malacards.org]
  • Dilantin has been noted to cause ophthalmoplegia as well as a slowly progressive peripheral neuropathy usually limited to decreased ankle jerks.[neurodiffdx.com]
Excitement
  • It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.[books.google.com]
  • .  Tetany is not caused by increased excitability of the muscles.  Muscle excitability is depressed  hypocalcemia impedes ACh release at NM junctions  However, the increase in neuronal excitability overrides the inhibition of muscle contraction. 13[slideshare.net]
  • […] face, ankles, or hands swelling of the scrotum swollen or painful glands tightness in the chest troubled breathing unpleasant breath odor unusual bleeding or bruising unusual drowsiness, dullness, tiredness, weakness or feeling of sluggishness unusual excitement[drugs.com]
  • Patients with early or mild intoxication may experience restlessness, confusion and excitement.[mentalhealth.com]
  • Coote JH, et al: Reflex discharges into thoracic white rami elicited by somatic and visceral afferent excitation. Journal of Physiology, 202:141-159, 1969. Cyriax J: Textbook of Orthopaedic Medicine: Vol One, Diagnosis of Soft Tissue Lesions, ed 8.[chiro.org]
Cerebellar Disease
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
  • […] alternating movement Symptoms of cerebellar disease-Gait ataxia broad based and unsteady with inability to walk in a straight line and a tendency to lurch from side to side Symptoms of cerebellar disease- Truncal ataxia impaired control of truncal posture[quizlet.com]
  • Non-Vascular Cerebellar Disease An Overview of Non-Vascular Cerebellar Disease The major drug group that affects the cerebellum is the anticonvulsants.[neurodiffdx.com]
  • It can be seen as a feature of: Trauma Osteoarthritis Pelvic girdle pain Gait in cerebellar disease Ataxia is the most prominent manifestation of cerebellar disease.[patient.info]
  • Cerebellar disease can also result in decrease tone.[casemed.case.edu]
Foot Drop
  • Early manifestation is foot drop, followed by weakness of proximal arm muscles. The course is variable. The gene involved is located at chromosome 12.[neuroweb.us]
  • Trendelenburg gait is also seen in L5 radiculopathy and after poliomyelitis, in which case there is usually also a foot drop.[patient.info]
  • Braces for correction of the foot-drop and hand deformities can be helped ambulatory by splinting and orthopedic procedures. Hereditary sensory neuropathy.[intranet.tdmu.edu.ua]
  • Foot drop from tibialis anterior weakness, inability to walk on the toes from gastrocnemius and soleus weakness, instability at the knee from quadriceps weakness or weakness of any of the glutei muscles (the strongest muscles in the body) will cause a[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]
Torsades De Pointes
  • de pointes, collapse, atrial fibrillation, nodal arrhythmia, QT interval prolonged, sinus bradycardia, ventricular fibrillation, shock, asystole, pulseless electrical activity, cardiogenic shock, atrioventricular block, severe hypotension Postmarketing[drugs.com]

Treatment

  • Acute and preventive pharmacologic treatment of cluster headache . Neurology 2010, 75 ( 5 ):463-73. CrossRef PubMed Google Scholar 24.[link.springer.com]
  • 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]
  • […] for which specific treatments are available.[mentalhealth.com]
  • 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]
  • Such treatments may include the following: Supportive: Management of airway, breathing, circulation; hydration; intensive care management may be needed in some cases Drug therapy Physical therapy Bracing Surgery See Treatment for more detail.[emedicine.medscape.com]

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]
Sex distribution
Age distribution

Pathophysiology

  • 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 the[nature.com]
  • Beware that some conditions, such as metabolic diseases of the brain, epilepsy and migraine have no circumscribed anatomical substrate, and are best described in pathophysiological rather than anatomical terms.[casemed.case.edu]

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]
  • 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]
  • Thus, laparotomy with removal of the dermoid is indicated to prevent torsion. Also, this patient's mass is causing her symptoms of pain and pressure and, on that basis, should be removed.[usmle.net]

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