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]

In the present study, NM was derived from a de novo mutation, and the patient presented with non-progressive muscle weakness. [spandidos-publications.com]

In the second part of the project we performed a deep morphological analysis in our cohort of more than 100 patients presenting a congenital myopathy and we identified homogeneous cohorts of patients presenting neonatal or antenatal onset congenital myopathies [theses.fr]

A clinicopathologic study. 56 Meier C...Geissbuhler J 6703949 1984 36 Nemaline myopathy presenting as cardiomyopathy. 56 Meier C...Geissbuhler J 6855830 1983 37 Congenital nemaline myopathy. I. [malacards.org]

• Swelling

  […] fatigue syndrome criteria include documented fatigue for six months or more, and at least four of the eight following symptoms: post exertion malaise, impaired memory/concentration, unrefreshing sleep, muscle pain, multi-joint pain without redness or swelling [brainscape.com]

  LGMD2B - dysferlin (DYSF gene) (allelic to Miyoshi myopathy), chromosome 2, onset age 18 years, very high CK, distal variant is Miyoshi myopathy with gastrocnemius involvement preceded by painful swelling, no cardiac involvement. [sites.google.com]

• Congestive Heart Failure

  If heart (cardiac) muscle is affected in later stages of disease, abnormal heart rhythms or weakness of the heart muscle (cardiomyopathy) may develop. A patient with cardiomyopathy is at risk for congestive heart failure (CHF). [consultantsinneurology.com]

  Cardiac disease association Arrhythmias Andersen-Tawil syndrome Kearns-Sayre syndrome Polymyositis Muscular dystrophies Myotonic Limb-girdle types 1B, 2C-F, and 2G Emery-Dreifuss Congestive Heart Failure Acid maltase deficiency Carnitine deficiency Muscular [sites.google.com]

• Chills

  They were detached from the capillary tubes and snap-frozen in liquid nitrogen-chilled propane and stored at −160 °C. X-Ray Experimental Set-Up. [pnas.org]

  When muscle is sufficiently chilled, the paramyotonia disappears, and the muscle is flaccid and paralyzed. [sites.google.com]

• Respiratory Insufficiency

  […] infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy. [orpha.net]

  Warlo}, journal={Neuromuscular Disorders}, year={1997}, volume={7}, pages={160-168} } Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. [semanticscholar.org]

  Abstract Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. [ncbi.nlm.nih.gov]

  Other features may include neck extensor weakness, respiratory insufficiency, or rapid progression. [emedicine.medscape.com]

• Hepatomegaly

  The clinical phenotype of MADD is highly heterogeneous ranging from neonatal-onset forms that manifest with hypotonia, hepatomegaly, hypoglycemia, and metabolic acidosis and later-onset forms that present with proximal muscle weakness often with hepatomegaly [intechopen.com]

  These patients do not typically have cardiomegaly, hepatomegaly, or mental retardation. [sites.google.com]

• Heart Failure

  Abstract Small heat shock protein HSPB7 is highly expressed in the heart. Several mutations within HSPB7 are associated with dilated cardiomyopathy and heart failure in human patients. [pnas.org]

  Google Scholar Olson TM, Michels VV, Thibodeau SN, Tai YS and Keating MT (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280: 750-752. [link.springer.com]

  Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280, 750–752 (1998). 4. Mogensen, J. et al. α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J. Clin. [nature.com]

  If heart (cardiac) muscle is affected in later stages of disease, abnormal heart rhythms or weakness of the heart muscle (cardiomyopathy) may develop. A patient with cardiomyopathy is at risk for congestive heart failure (CHF). [consultantsinneurology.com]

  Cardiac disease association Arrhythmias Andersen-Tawil syndrome Kearns-Sayre syndrome Polymyositis Muscular dystrophies Myotonic Limb-girdle types 1B, 2C-F, and 2G Emery-Dreifuss Congestive Heart Failure Acid maltase deficiency Carnitine deficiency Muscular [sites.google.com]

• Muscle Hypotonia

  Warlo}, journal={Neuromuscular Disorders}, year={1997}, volume={7}, pages={160-168} } Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. [semanticscholar.org]

  Abstract Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. [ncbi.nlm.nih.gov]

  hypotonia and two of them from fatal respiratory insufficiency. [scipers.com]

  […] in which brain and skeletal muscle tissue are involved, producing marked hypotonia, respiratory muscle weakness, and feeding difficulty [93]. [intechopen.com]

• Lordosis

  Neck and back pain due to paraspinous muscle weakness, with kyphosis and exaggerated lumbar lordosis, is also common. [sites.google.com]

  Orthopedic affections such as lordosis, scoliosis, and joint contractures are usually observed. Approximately, 30% of CFTDM patients exhibit respiratory muscle hypotonia, requiring breathing assistant. [intechopen.com]

• Neck Muscle Weakness

  Neck and back pain due to paraspinous muscle weakness, with kyphosis and exaggerated lumbar lordosis, is also common. [sites.google.com]

• Suggestibility

  Two of our three patients also had intranuclear rods with virtually no sarcoplasmic rods suggesting the term of this congenital myopathy as actin myopathy with intranuclear rods. [ncbi.nlm.nih.gov]

  Al-though initially delayed, he has reached all milestones and remains stable.These ndings suggest intranuclear rods may increase with time and do notnecessarily imply a poor prognosis.Muscle Nerve 34: 369372, 2006INTRANUCLEAR NEMALINE ROD MYOPATHYVASSIL [documents.tips]

  These masses of thin filaments were found in different muscles at different occasions in the three children, suggesting a disease-specific morphological and possibly nosological feature… CONTINUE READING [semanticscholar.org]

  This is the fifth report of adult-onset nemaline myopathy in a patient with monoclonal gammopathy, suggesting that the occurrence of these entities may be more than a chance association. [jamanetwork.com]

• Waddling Gait

  MalaCards based summary : Actin-Accumulation Myopathy, also known as nemaline myopathy 3, is related to nemaline myopathy 3, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. [malacards.org]

  Examination revealed waddling gait, generalized hypotonia of all four limbs and calf hypertrophy. The CPK level was 75U/L and EMG revealed myopathic changes. Echocardiography showed no abnormality. [neurologyindia.com]

  Top 5 symptoms and clinical features associated to ACTA1 gene Symptoms // Phenotype % Cases Waddling gait Common - Between 50% and 80% cases Facial palsy Common - Between 50% and 80% cases Nemaline bodies Common - Between 50% and 80% cases Flexion contracture [mendelian.co]

  Symptoms usually presents by age 2 to 5 years when the parent notes that the child ambulates with a wide-based gait, waddling of hips, difficulty running and jumping (never achieved), lumbar lordosis, and calf pseudohypertrophy. [sites.google.com]

• Hyporeflexia

  […] features Patients with ACTA1 gene alterations may also develop some of the following symptoms and phenotypes: Commonly - More than 50% cases Polyhydramnios Decreased fetal movement Arthrogryposis multiplex congenita High palate Scoliosis Motor delay Hyporeflexia [mendelian.co]

  Clinically, congenital myopathies manifest with heterogeneous features such as generalized weakness, hypotonia, hyporeflexia, and poor muscle bulk. [intechopen.com]

  Proximal and distal weakness; hyporeflexia. Respiratory failure in severe forms and can be fatal. CK is mildly elevated Electrodiagnostic: Patients with centronuclear myopathy may have an associated defect of neuromuscular transmission. [sites.google.com]

• Areflexia

  […] type Congenital nemaline myopathy Constitutional mismatch repair deficiency syndrome Cowden syndrome Cylindrical spirals myopathy DPM3-CDG Dejerine-Sottas syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy-areflexia-respiratory [se-atlas.de]

  There are rare additional myopathies due to mutations in MEGF10 (multiple epidermal growth factor like domains 10), EMARDD (myopathy, areflexia, respiratory distress, and dysphagia, early onset), and SMARD1 (spinal muscular atrophy, distal, autosomal [brainscape.com]

  EMARDD (early-onset myopathy with areflexia, respiratory distress and dysphagia) due to a mutation in multiple epidermal growth factor-like domains 10 ( MEGF10 ); [34] presentation before 1 year with severe proximal and distal weakness, hypotonia, respiratory [misc.medscape.com]

• Irritability

  Features that would suggest a steroid myopathy as opposed to relapse of myositis would be a normal CK, and absence of muscle membrane irritability on EMG. [sites.google.com]

Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped [sites.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]

What is the usual initial treatment for polymyositis, and dermatomyositis? Initial treatment of polymyositis, dermatomyositis, and inclusion body myositis are similar. [brainscape.com]

TREATMENT Treatment for myopathies depends on the cause. The goals of myopathy treatment are to slow progression of the disease and relieve symptoms. [consultantsinneurology.com]

Treatment team Management of a congenital myopathy requires a multidisciplinary approach. [encyclopedia.com]

Standard Therapies Treatment No specific treatment exists for nemaline myopathy. Treatment is supportive and directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

PROGNOSIS If the underlying cause of the myopathy can be treated successfully, as in the case of endocrine myopathies, the prognosis is usually good. [consultantsinneurology.com]

Bachinski LL, Arai AE, Ortiz A, Roberts R, Homsher E et al. (2001) Hypertrophic cardiomyopathy caused by a novel a-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis [link.springer.com]

Prognosis The outlook for children with central core disease is generally positive. Although they begin life with some developmental delays, many improve as they get older and stay active throughout their lives. [encyclopedia.com]

The existence of ultrasonographic antenatal signs seems to be a factor of poor prognosis. In spite of recent genetic discoveries, there is at present no specific antenatal diagnosis. [karger.com]

Toour knowledge, there are only two prior reports ofthis variant.10,25 Examination of our patients twobiopsies revealed that the percentage of inclusionsincreased with age and, more important, that theywere not necessarily a marker of a grave prognosis [documents.tips]

Nemaline rods are seen as a minor feature of muscle biopsies in a variety of neuromuscular disorders10 and rarely even in normal muscle.8 Nemaline myopathy is diagnosed when nemaline rods are the predominant finding8 and features of other etiologies are [jamanetwork.com]

Biochemical studies revealed a previously unsuspected function of HSPB7 in interacting with and limiting actin monomer availability for actin filament polymerization, giving mechanistic insight into the etiology of aberrant sarcomeres observed in HSPB7 [pnas.org]

This congenital nonprogressive myopathy is not as benign as previously thought and may be an etiology of the lethal form of arthrogryposis multiplex congenita. The existence of ultrasonographic antenatal signs seems to be a factor of poor prognosis. [karger.com]

The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998;51:1646-55. Back to cited text no. 9 [ PUBMED ] 10. Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Desmin myopathy. Brain 2004;127:723-34. [bioline.org.br]

Pathogenesis: Unknown etiology. Eosinophilia may be the result of effect of T-cell clones. Oligoclonal expansion of T cells within the muscle in PM is noted. [sites.google.com]

[…] autosomal recessive cerebellar ataxia Spinocerebellar ataxia type 5 Usher syndrome type 1 Synonym(s): - Actin myopathy Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for ACTA1 Genetic Association Database (GAD) ACTA1 Human Genome Epidemiology (HuGE) Navigator ACTA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ACTA1 No data available for Genatlas for ACTA1 Gene The pathogenesis [genecards.org]

However, the overall incidence of CM among the spectrum of neuromuscular diseases is unknown and so is the frequency of individual CMs. [10], [11], [12], [13], [14], [15], [16], [17], [18], [19] This lack of epidemiological data is probably related to [neurologyindia.com]

References Epidemiology Frequency The true incidence of congenital myopathies is unknown as no large population-based studies have been conducted. However, there are a varied number of stuidies that demonstrate a relative incidence of the diseases. [misc.medscape.com]

Sarcoglycan (alpha, beta, gamma, delta) - mutations weaken Dystrophin-Glycoprotein Complex (DGC), increases risk of mechanical injury Heterogenous group of rare inherited muscle disorders defined by pathophysiology Muscle weakness is a hallmark Dx via [quizlet.com]

ACTA1), nebulin (NEB), β-tropomyosin (TPM2), and troponin T1 (TNNT1).4 Although additional genes associated with nemaline myopathy remain to be identified, some cases likely involve nemaline body formation as a nonspecific or secondary response to local pathophysiological [jamanetwork.com]

- Morphological analysis and investigation of pathophysiological mechanisms underlying the appearance of the protein aggregates in patients with RBM and other phenotype associated with mutation in the FHL1 gene. 2. - Clinical and morphological characterisation [theses.fr]

However, depending upon the pathophysiology of the disease, bracing is sometimes contraindicated as imobility can result in worsening weakness. [misc.medscape.com]

Such therapy is aimed at preserving muscle strength and function and to prevent the development of contractures. In addition, respiratory support may be necessary, potentially including mechanical ventilation to prevent nocturnal hypoventilation. [rarediseases.org]

Preventive treatment for permanent contraction of a muscle ( contractures ) includes physical therapy and bracing. There are currently no drugs available to prevent or treat contractures. [consultantsinneurology.com]

In this regard, tropomyosin movement blockade over the thin filament—thus, over the surface of actin—would prevent cross-bridge formation and potential subsequent modifications in the actin structure. [pnas.org]

If the test result is negative (please describe): A negative result may influence lifestyle choices in the opposite directions to those indicated above. 3.2.2 Which options in view of lifestyle and prevention does a person at-risk have if no genetic test [nature.com]

Prevention: To prevent the occurrence of attacks, a diet low in sodium and carbohydrates, but rich in potassium (10-20 mEq tid, with a goal of maintaining Sr K: 4 mEq/L) is recommended. [sites.google.com]