Frequent zebra bodies were present. Because of the large number of zebra bodies seen, the name "zebra body myopathy" is provisionally proposed. [ncbi.nlm.nih.gov]

ORPHA:97240 Synonym(s): - Prevalence: Inheritance: Unknown Age of onset: - ICD-10: G71.2 OMIM: - UMLS: C0270969 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

Hanna Published in Neuromuscular Disorders 2015 DOI: 10.1016/j.nmd.2015.02.003 We present follow up data on the original case of 'zebra body myopathy' published by Lake and Wilson in 1975. [semanticscholar.org]

The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation [emedicine.medscape.com]

• Weakness

  Biopsy of the deltoid muscle of a 4-day-old baby boy with congenital hypotonia and weakness showed zebra bodies and other myopathic changes. [ncbi.nlm.nih.gov]

  59 32 hallmark (90%) Very frequent (99-80%) HP:0003327 13 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467 14 gowers sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003391 15 difficulty climbing stairs 59 32 hallmark [malacards.org]

  A benign congenital, non-progressive form of myopathy [ORPHA97240], which is characterised by congenital hypotonia and weakness, in which variably-sized muscle fibres have characteristic striped and rod-shaped bodies by electron microscopy and other myopathic [medical-dictionary.thefreedictionary.com]

• Falling

  […] in the elderly Today we discussed the common problem of falls in the elderly. [morningreporttgh.blogspot.com]

  Hyporeflexia Neck muscle weakness Lower limb muscle weakness Generalized hypotonia Difficulty climbing stairs Motor delay Rare Symptoms - Less than 30% cases Difficulty walking Hyperlordosis Rimmed vacuoles Scoliosis Skeletal muscle atrophy Frequent falls [mendelian.co]

  Patients who have the disease gradually lose the ability to walk, experience falls and injuries, lose hand function and have swallowing difficulties (dysphagia) with the risk of choking and aspiration pneumonia. [understandingmyositis.org]

  Indications for the use of transmission electron microscopy (TEM) for pathologic diagnosis fall into major categories: Renal Disease Neoplasms Infectious Disease Metabolic Disease Disease of Obscure Nature and/or Unknown Etiology RENAL DISEASE: The very [va.gov]

• Difficulty Climbing Stairs

  climbing stairs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003551 16 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460 17 myofibrillar myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003715 18 muscle fiber splitting [malacards.org]

  Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. [mendelian.co]

  Patients may complain of difficulty climbing stairs or fixing their hair in the morning. These disorder can be due to genetic disorders, inflammatory disorders and metabolic disorders among others. [hickoryneurology.net]

• Developmental Delay

  Human phenotypes related to Zebra Body Myopathy: 59 32 (show all 23) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 facial palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0010628 2 global developmental delay 59 32 hallmark [malacards.org]

  Related symptoms: Global developmental delay Elevated serum creatine phosphokinase Neonatal hypotonia Proximal muscle weakness Facial palsy SOURCES: ORPHANET MENDELIAN More info about ZEBRA BODY MYOPATHY High match MYASTHENIC SYNDROME, CONGENITAL, 12; [mendelian.co]

  delay-contractures syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Isaac syndrome Juvenile amyotrophic lateral sclerosis Juvenile dermatomyositis Juvenile idiopathic inflammatory myopathy Juvenile myasthenia gravis Juvenile [se-atlas.de]

• Pathologist

  […] evaluate muscle disorders with confidence "Overall, this is a well written and comprehensive textbook of muscle pathology that will be of invaluable assistance to laboratories reporting muscle pathology" Reviewed by The Bulletin of The Royal College of Pathologists [books.google.com]

  This is a very simple and minor outpatient procedure in which a small sample of a part of a muscle is removed from a small incision and subsequently analyzed by the pathologist. [hickoryneurology.net]

  There are differences of opinion among pathologists using light microscopy as to the etiology of an Infectious disease. An example of this situation was published in Ultrastructural Pathology (9). [va.gov]

  […] or when the pathologist is not aware of therapy. 3 The inclusions in Fabry disease consist of the stored glycosphingolipid, are characterized as myelin figures or ‘zebra bodies’, and may be found in renal epithelial cells, endothelial cells, myocardial [nature.com]

• Myopathy

  Our patient and an other patient reported in the literature establish zebra body myopathy as an ultrastructurally distinct benign congenital myopathy. [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Zebra body myopathy Disease definition Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. [orpha.net]

  Hanna Published in Neuromuscular Disorders 2015 DOI: 10.1016/j.nmd.2015.02.003 We present follow up data on the original case of 'zebra body myopathy' published by Lake and Wilson in 1975. [semanticscholar.org]

• Muscle Weakness

  weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003327 13 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467 14 gowers sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003391 15 difficulty climbing stairs 59 32 hallmark [malacards.org]

  % cases Muscle weakness Common - Between 50% and 80% cases Elevated serum creatine phosphokinase Common - Between 50% and 80% cases Proximal muscle weakness Common - Between 50% and 80% cases Distal muscle weakness Uncommon - Between 30% and 50% cases [mendelian.co]

  This condition has several subtypes and often causes severe muscle weakness in the arms and legs, and scoliosis. Myotubular myopathy. This rare condition, which occurs only in males, causes muscle weakness, floppiness and breathing problems. [hellodoktor.com]

• Muscular Atrophy

  He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]

  atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Rare dystonia Rare neuroinflammatory or neuroimmunological disease Reducing body myopathy [se-atlas.de]

  atrophy, complex regional pain syndrome, disorders of DNA translation, the immune restoration inflammatory syndrome (IRIS), and Hashimoto encephalopathy. [books.google.de]

  Atrophy Age minimum: N/A Age maximum: N/A Gender: All Health Condition(s) or Problem(s) studied Actin Aggregation Myopathy Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN) Alpha-Dystroglycan Related Muscular Dystrophy [who.int]

  The disorder was classified as proximal spinal muscular atrophy on the basis of biopsy and electromyographic findings interpreted as neurogenic changes. [jamanetwork.com]

• Proximal Muscle Weakness

  muscle weakness 59 Very frequent (99-80%) 23 emg 32 hallmark (90%) HP:0003458 [malacards.org]

  CMS12 Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. [mendelian.co]

  Proximal muscle weakness (upper or lower extremity and trunk) 3. Elevated serum creatine kinase or aldolase level 4. Muscle pain on grasping or spontaneous pain 5. [aafp.org]

• Myalgia

  […] with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis [mdi.ie]

  DISTAL ANOCTAMINOPATHY Is also known as miyoshi muscular dystrophy type 3 mmd3 miyoshi myopathy 3 Related symptoms: Muscle weakness Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Myalgia SOURCES: OMIM ORPHANET MENDELIAN More info [mendelian.co]

  Eosinophilia myalgia syndrome (L-tryptophan myopathy) Diagnosis: The diagnosis of most myopathies involves a combination of laboratory studies and nerve conduction studies with specific testing of the muscles. [hickoryneurology.net]

• Suggestibility

  The presence of nemaline rods and actin-like filaments in addition to small zebra bodies suggested ACTA1 as a candidate gene. This has been confirmed by the identification of a novel c.1043T.p.Leu348Gln mutation, which probably occurred de novo. [ncbi.nlm.nih.gov]

  This suggestion is supported by the fact that the major protein of the Z disk and nemaline bodies/rods, a-actinin has so far never been found to be mutated in any nemaline myopathy patient. [bioline.org.br]

  The muscle biopsy findings in this patient suggest a new entity of congenital myopathy with clinical features of rigid spine, cardiomyopathy and restrictive respiratory insufficiency, characterized by peculiar abnormalities of ATPase staining in a mosaic [link.springer.com]

  In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (β-tropomyosin in cap disease and perhaps skeletal muscle α-actin in Zebra body myopathy), further genes [journals.lww.com]

  Parental segregation testing was negative, suggesting parental mosaicism. Patient 3 is a 5-year-old boy with congenital-onset myopathy with severe neonatal weakness and respiratory failure, requiring full-time ventilation. [hub.hku.hk]

• Peripheral Neuropathy

  Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.com]

  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc Related symptoms: Muscle weakness Peripheral neuropathy Gait disturbance Myopathy Hyporeflexia SOURCES: OMIM MENDELIAN More info about CHARCOT-MARIE-TOOTH [mendelian.co]

  […] disease type C, severe perinatal form Non-dystrophic myopathy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Opsoclonus-myoclonus syndrome Overlap myositis Paramyotonia congenita of Von Eulenburg Parasitic myositis Periodic paralysis Peripheral [se-atlas.de]

• Gowers Sign

  sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003391 15 difficulty climbing stairs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003551 16 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460 17 myofibrillar myopathy [malacards.org]

  Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [mendelian.co]

  Gower's sign). There does not appear to be any association between juvenile dermatomyositis and malignancy. 3 OVERLAP SYNDROME A number of patients with dermatomyositis also meet the criteria for one of the connective tissue disorders. [aafp.org]

• Waddling Gait

  gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515 7 rimmed vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003805 8 nemaline bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003798 9 handgrip myotonia 59 32 hallmark (90%) Very [malacards.org]

  Diseases related with Myopathy and Waddling gait In the following list you will find some of the most common rare diseases related to Myopathy and Waddling gait that can help you solving undiagnosed cases. [mendelian.co]

• Neonatal Hypotonia

  Myopathy: 59 32 (show all 23) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 facial palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0010628 2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263 3 neonatal [malacards.org]

  Related symptoms: Global developmental delay Elevated serum creatine phosphokinase Neonatal hypotonia Proximal muscle weakness Facial palsy SOURCES: ORPHANET MENDELIAN More info about ZEBRA BODY MYOPATHY High match MYASTHENIC SYNDROME, CONGENITAL, 12; [mendelian.co]

• Paresis

  […] cholesterol concentration Proximal lower limb amyotrophy Progressive peripheral neuropathy Proximal muscle weakness in upper limbs Supraventricular arrhythmia Peroneal muscle weakness Left anterior fascicular block Scapuloperoneal amyotrophy Vocal cord paresis [mendelian.co]

The majority of these patients have an identifyable enteric pathogen if extensive enough workup is done. There is a small subset of HIV patients with "HIV enteropathy", in whom there is no identifyable pathogen. [morningreporttgh.blogspot.com]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The earlier the therapy with corticosteroids, the better is the overall prognosis. Our patient responded to steroids therapy (prednisolone 60 mg once daily). [casereports.in]

This subgroup of patients has a better prognosis than adult patients. [aafp.org]

An accurate genetic diagnosis often ends a lengthy diagnostic odyssey for the patient and their family, removing the psychological effects of an absent disease, and can sometimes influence possible prognosis. [doi.org]

Churg-Strauss should be suspected in patients with asthma (esp. adult onset) AND other organ involvement neurologic (esp. mononeuritis multiplex), gastrointestinal, pulmonary infiltrates, cardiac involvement (which would portend a poor prognosis), with [morningreporttgh.blogspot.com]

Nodular melanoma is the most aggressive type of melanoma and hence carries the worst prognosis. 66. [mypgnotes.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]

In general, use of TEM is indicated whenever the etiology of a suspected infectious disease is unknown. [va.gov]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.de]

The Idiopathic Inflammatory Myopathies (IIM) are a heterogeneous group of muscle diseases of unknown etiology characterized by inflammation of the muscles used for movement; the skeletal muscles. Myopathy is a term used to describe muscle disease. [understandingmyositis.org]

Our approach is readily adaptable by other research groups, and is expected to accelerate biomedical research in domains related to the pathophysiology of retinal dopaminergic amacrine cells. [pubs.rsc.org]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.de]

Thermolability selectively found in myoblasts and not in erythrocytes of the patients plays a crucial role in the pathophysiology of this disease. [journals.plos.org]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

Not only did this mean the aggregates were not removed but the other pathways were prevented from taking over. [medicalxpress.com]