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]

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]

Within families, there can be considerable variation with respect to disease presentation and degree of muscle involvement. The serum creatine kinase (CK) levels are either normal or usually mildly elevated. [neurology.mhmedical.com]

• Difficulty Climbing Stairs

  climbing stairs 60 33 hallmark (90%) Very frequent (99-80%) HP:0003551 16 distal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002460 17 myofibrillar myopathy 60 33 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: 60 33 (show all 23) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 facial palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0010628 2 global developmental delay 60 33 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]

• Proximal Muscle Weakness

  % 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]

  […] serum creatine phosphokinase 60 Very frequent (99-80%) 23 proximal muscle weakness 60 Very frequent (99-80%) [malacards.org]

  The most common are proximal muscle weakness, dysphonia or dysphagia. Other possible symptoms include respiratory muscle weakness, visual changes and abdominal pain. [aafp.org]

• Torticollis

  80%) HP:0003805 8 nemaline bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003798 9 handgrip myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012899 10 decreased fetal movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0001558 11 torticollis [malacards.org]

  Less than 30% cases Difficulty walking Hyperlordosis Rimmed vacuoles Scoliosis Skeletal muscle atrophy Frequent falls Falls Neck flexor weakness Neonatal hypotonia Myalgia Scapular winging Proximal amyotrophy Centrally nucleated skeletal muscle fibers Torticollis [mendelian.co]

• Neck Muscle Weakness

  weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003327 13 neck muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000467 14 gowers sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003391 15 difficulty climbing stairs 60 33 hallmark [malacards.org]

  Gait disturbance Progressive muscle weakness Areflexia Muscle fiber splitting Increased variability in muscle fiber diameter Muscular dystrophy Hyporeflexia Neck muscle weakness Lower limb muscle weakness Generalized hypotonia Difficulty climbing stairs [mendelian.co]

• Gowers Sign

  sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003391 15 difficulty climbing stairs 60 33 hallmark (90%) Very frequent (99-80%) HP:0003551 16 distal muscle weakness 60 33 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]

• Waddling Gait

  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]

  gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002515 6 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458 7 rimmed vacuoles 60 33 hallmark (90%) Very frequent (99-80%) HP:0003805 8 nemaline bodies 60 33 hallmark [malacards.org]

• Neonatal Hypotonia

  Myopathy: 60 33 (show all 23) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 facial palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0010628 2 global developmental delay 60 33 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]

• Radiculopathy

  Radiculopathy/neuropathy 3. Myasthenic syndrome 4. Distal axon (twig) disease 5. Inflammatory myopathies (polymyositis, dermatomyositis) 6. Embolic Toxic myopathies 1. Alcohol 2. Iron 3. Chloroquine 4. Clofibrate 5. Glycoprotein 6. EACA 7. [hickoryneurology.net]

  Nerve root: Radiculopathy, usu at 1 level, often painful. Unilateral if physical compression If demyelinating (e.g. Guillain-Barre), bilateral leg weakness with areflexia Peripheral nerve: Sensory findings associated, in dermatomal distribution. [morningreporttgh.blogspot.com]

• Polyneuropathy

  […] atrophy of childhood CANOMAD syndrome CLIPPERS Cap myopathy Cardiodysrhythmic potassium-sensitive periodic paralysis Centronuclear myopathy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Chronic inflammatory demyelinating polyneuropathy [se-atlas.de]

  […] neuropathy Abnormal palate morphology Abducens palsy Torticollis Foot dorsiflexor weakness Multiple joint contractures Tetraparesis Lissencephaly Adducted thumb Bilateral sensorineural hearing impairment Urinary incontinence Paralysis Generalized amyotrophy Polyneuropathy [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]

Treatment with long-chain fatty-acid-free diet resulted in remarkable clinical improvement and in decrease of lipid droplets in the muscle. [scholars.northwestern.edu]

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]

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

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]