Presentation
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]
Other presentations Autosomal recessive (and autosomal dominant) inheritance have been described with several different presentations. [slideshare.net]
An oculomotor nerve palsy with limited abduction and some degree of facial palsy are usually present. The Moebius sequence is present in many patients. Epicanthal folds, downslanting lid fissures, and ptosis are frequently seen. [disorders.eyes.arizona.edu]
Superficial reflexes absent Present Microcephaly, MR,Seizures May be present absent Respiratory muscle involvment rare Common Primitive reflex Present Absent Voice Normal Feeble ( Dysphonic) Cardiomegaly Rare Often Autonomic nervous system Not pronounced [dnbpediatrics.com]
Presentation in adulthood has also been described, but other disease processes mimicking the appearance of a congenital myopathy should be considered. 11 Presentation at birth is often associated with “myopathic” facial features, feeding difficulties, [clinicalgate.com]
Cardiovascular
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Heart Disease
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Human Molecular Genetics. 2014 Feb 15;23(4):980-991. [kclpure.kcl.ac.uk]
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease, Human Molecular Genetics, 2014, 980-991, DOI: 10.1093/hmg/ddt494 [paperity.org]
disease Facial abnormalities Respiratory disease Abdominal hernias Fragile long bones AMC Interventions: Infancy Developmental milestones Stretching Splinting Strength Positioning Improving ROM Increase independence Improve ADL's Increase child's motor [quizlet.com]
Disease Heterotaxy Congenital Insensitivity to Pain Syndrome Congenital Lipoid Adrenal Hyperplasia Congenital Merosin Deficient Muscular Dystrophy Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities Congenital Myasthenic Syndrome Congenital [sequencing.com]
disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic paraplegia 25 Camptodactyly-ichthyosis syndrome BRCA1 hereditary breast and ovarian cancer syndrome Multicentric carpotarsal [checkrare.com]
Fetus
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Reduced Fetal Movement
The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable. [checkorphan.org]
fetal movement. [2] Also muscle abnormalities could lead to a reduction of fetal movement. [en.wikipedia.org]
Two patients from 1 family exhibited prenatal symptoms with reduced fetal movements, polyhydramnios, and hydrops. Most showed delayed motor development and difficulty running in childhood; some patients also reported limited walking distances. [bio2rdf.org]
Clinical description Presentation of MmD is usually in infancy or childhood with hypotonia or proximal weakness; prenatal onset with reduced fetal movements and polyhydramnios has also been recognized [ 7, 8 ]. [ojrd.biomedcentral.com]
In utero, reduced fetal movements, polyhdramnios Hypotonia and weakness at birth, or in early childhood Ptosis, EOM weakness, hypotonia, facial, pharyngeal, laryngeal, and neck muscle weakness. Proximal and distal weakness; hyporeflexia. [sites.google.com]
Psychiatrical
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Suggestibility
Note: Where clinical evaluation suggests complex multisystem involvement (i.e. hypotonia plus) inborn errors of metabolism should be excluded. [dnbpediatrics.com]
RYR1 involvement was also suggested by linkage evidence in four additional families with a similar phenotype, 110 including the original family reported by Swash and Schwartz. 94 RYR1 involvement in the moderate form of MmD with hand involvement was suggested [clinicalgate.com]
Additionally, our results suggest titin kinase implication in cardiac morphogenesis and demonstrate that heterozygous TTN truncating mutations may not manifest unless associated with a second mutation, reassessing the paradigm of their dominant expression [kclpure.kcl.ac.uk]
Regional studies in Northern Ireland [ 3 ] and Western Sweden [ 4 ] suggest a prevalence between 3.5 – 5.0/100,000 in a Paediatric population. [ojrd.biomedcentral.com]
Face, Head & Neck
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Short Neck
* Short neck Prevention - Minicore myopathy- antenatal onset- with arthrogryposis Not supplied. [checkorphan.org]
Other features included dolichocephaly, prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and short neck with mild pterygium colli. [bio2rdf.org]
All 3 had dolichocephaly, aprominent nasal root, oblique palpebral fissures, a higharched palate, low-set ears, and a short neck with mild Table 3. [docslide.net]
Neurologic
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Delayed Speech and Language Development
speech and language development and Stage 5 chronic kidney disease, related diseases and genetic alterations Hydrocephalus and Bruising susceptibility, related diseases and genetic alterations Myopathy and Posteriorly rotated ears, related diseases and [mendelian.co]
Workup
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]
Treatment
Treatment Treatment Options: No treatment for the general disorder has been reported. [disorders.eyes.arizona.edu]
[ edit ] The treatment of arthrogryposis includes occupational therapy, physical therapy, splinting and surgery. [3] The primary long-term goals of these treatments are increasing joint mobility, muscle strength and the development of adaptive use patterns [en.wikipedia.org]
Individuals/Families Peer Support Peer-to-peer Counseling Referrals to Local Chapter or Group Patient Navigators Translation Services Therapy & Counseling Professional Counseling Crisis Intervention Grief Counseling Medical Referrals Medical Care Clinical or Treatment [diseaseinfosearch.org]
Treatment - Minicore myopathy- antenatal onset- with arthrogryposis Not supplied. Resources - Minicore myopathy- antenatal onset- with arthrogryposis Not supplied. [checkorphan.org]
Equipment to prevent trunk deformities Developmental activities Understand the pathogenicity of the disease Evaluate functional abilities Design treatment to maximize function and reduce secondary effects Avoid fatigue/overuse syndromes SMA Type 2: [quizlet.com]
Prognosis
Ovulation Tests o Home Fertility Tests o Home Rhesus/RH Blood Type Tests o Home Fetal Tests * Fertility-related Home Testing: o Home Ovulation Tests o Home Fertility Tests * Male Fertility Tests o Home Sperm Tests o Sperm Count Tests o Sperm Motility Tests Prognosis [checkorphan.org]
Prognosis: variable course Diagnosis : Histopathology: • More type 1 fibres than type 2. • Within these fibres, there are structures which are called ‘cores’; which can be seen under the microscope. [slideshare.net]
SMA) Autosomal recessive inherited disease: Second most common group of fatal recessive diseases Abnormality of the large anterior horn cells Diagnosed via EMG, biopsy, genetic testing: Commonly demonstrate tongue fasciculations No cure with variable prognosis [quizlet.com]
Prognosis [ edit ] People with AMC look their worst at birth. AMC is considered non-progressive, so with proper medical treatment, things can improve. The joint contractures that are present will not get worse than they are at the time of birth. [en.wikipedia.org]
Onset of signs during childhood seems to beassociated with a better functional prognosis than earlieronset. The severity of the disease was determined by therespiratory function. [docslide.net]
Etiology
Onset after 18 months, Chronic/Juvenile form Variant of SMA – Fazio Londe disease – Progressive bulbar palsy Etiology : Pathologic continuation of a process of programmed cell death (Apoptosis), which is normal in embryologic life. [dnbpediatrics.com]
[…] infection Arthrogryposis, SMA, CMT2/HSMN, ALS (rate of progression: slow to fast) Arthrogryposis Multiplex Congenita (AMC) Neurogenic and myopathic disorders Fetal joints are immobilized due to muscle weakness Anterior horn cell degeneration Unknown etiology [quizlet.com]
Accumulation of other proteins also occurs, including the actin cross-linking protein γ-filamin, αβ-crystallin, small heat shock protein 27, and myotilin 46 ; however, these are nonspecific findings and may be observed in core formation of different etiology [clinicalgate.com]
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]
Epidemiology
"Arthrogryposis multiplexa congenita: An epidemiologic study of nearly 9 million births in 24 EUROCAT registers". European Journal of Obstetrics & Gynecology and Reproductive Biology. 159 (2): 347–50. doi : 10.1016/j.ejogrb.2011.09.027. [en.wikipedia.org]
Epidemiology: Worldwide: Incidence:6 per 100,000 live births or 1/10th of all neuromuscular disorders. [slideshare.net]
Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for individual conditions. [ojrd.biomedcentral.com]
This chapter summarizes the epidemiology, clinical features, investigations, and management of the congenital myopathies as a group and outlines specific features, genetics, and pathogenesis of the major disease entities in more detail. [clinicalgate.com]
Pathophysiology
However, relatively few TTN mutations and phenotypes are known, and titin pathophysiological role in cardiac and skeletal muscle conditions is incompletely understood. [kclpure.kcl.ac.uk]
For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]
[…] and MHS have been extensively investigated in response to the in vitro contracture test (IVCT), in cultured myotubes from patients and in various homologous and heterologous expression systems, resulting in a tentative understanding of the molecular pathophysiology [ojrd.biomedcentral.com]
Prevention
Equipment to prevent trunk deformities Developmental activities Understand the pathogenicity of the disease Evaluate functional abilities Design treatment to maximize function and reduce secondary effects Avoid fatigue/overuse syndromes SMA Type 2: [quizlet.com]
VERTICAL SUSPENSION: o Examiner places both hands in axilla and with out grasping thorax, lifts straight up. o With weakness, infant needs to be grasped around trunk to prevent falling. [dnbpediatrics.com]
Minicore myopathy- antenatal onset- with arthrogryposis Other Possible Causes of these Symptoms * Delayed motor development * High arched palate * Long head * Low set ears * Muscle wasting * Muscle weakness * Respiratory problems * Short neck * Short neck Prevention [checkorphan.org]
Gastrostomy might be indicated in selected cases to prevent failure to thrive and the risk of aspiration. [clinicalgate.com]
Surgical Care • Orthopedic surgery is often necessary in patients who live several years with their disease to prevent contractures and scoliosis Post scoliosis Surgery: 78. [slideshare.net]