The patients presented with the same symptoms. One presented with calf hypertrophy and one with tongue hypertrophy. [cags.org.ae]

Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

[…] be present as well. [en.wikipedia.org]

There are several different possible mutations within the FKRP gene that will result in a different disease presentation and progression. [lgmd2i.com]

The patient in the present study was only 4 years old and had not suffered from any severe respiratory infections. [spandidos-publications.com]

• Weakness

  The oldest child in the six individuals was the most severely affected with severe facial weakness, progressive weakness and macroglossia. She underwent surgery for scoliosis and had severe restrictive respiratory insufficiency. [cags.org.ae]

  Affected infants usually exhibit profoundly diminished muscle tone (hypotonia) and muscle weakness at birth. Muscle weakness often affects the arms, legs, and trunk. [rarediseases.org]

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

  It causes muscle weakness and wasting in the shoulders, upper arms, and lower legs. [webmd.com]

  May need nasogastric tube, limb weakness and elevated serum creatine kinase. [en.wikipedia.org]

• Disability

  […] dystrophy type 2K with microcephaly, intellectual disability, normal MRI LGMD2M = Limb-girdle muscular Dystrophy type 2M (no intellectual disability) LGMD2N = Congenital muscular dystrophy/limb-girdle muscular dystrophy type 2N (intellectual disability [ncbi.nlm.nih.gov]

  They include weakness in muscle tone within the first year, deformed and rigid joints, spinal curvatures, seizures, eye involvement and intellectual disability. [en.wikipedia.org]

  Some forms of the disorder progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability. [mda.org]

  Zoe Hallam, 18, who has limb-girdle muscular dystrophy, said: "In a process that is already complicated for any student, the additional restrictions placed on disabled people can make it a real challenge to go to university. [acronymfinder.com]

  Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing Impairment Hereditary Blood Disorders Immunological Imprinting Intellectual Disability [mlpa.com]

• Epilepsy

  Childhood Absence 5 2 Epilepsy, Childhood Absence 6 1 Epilepsy, Early-Onset, Vitamin B6-Dependent 1 Epilepsy, familial focal, with variable foci 4 Epilepsy, Familial Focal, with Variable Foci 2 4 Epilepsy, Familial Focal, with Variable Foci 3 1 Epilepsy [preventiongenetics.com]

  […] pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy [books.google.com]

  DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct. 72(4):550-8. [Medline]. Lefeber DJ, Schonberger J, Morava E, et al. [emedicine.medscape.com]

  Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. [ncbi.nlm.nih.gov]

  Pini AMerlini LTome FMChevalley MGobbi G Merosin negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: report from three Italian cases in two families. [jamanetwork.com]

• Feeding Difficulties

  Some infants may experience respiratory and feeding difficulties shortly after birth (neonatal period). Feeding difficulties may result in affected children failing to gain weight and grow at the expected rate (failure to thrive). [rarediseases.org]

  Feeding difficulties leading to failure to thrive may be managed by gastrostomy. [rarediseases.info.nih.gov]

  MDC1A is characterized by congenital muscle hypotonia, delayed or arrested motor milestones and feeding difficulties. [spandidos-publications.com]

  Speech therapy and swallowing studies are used to evaluate those with feeding difficulties and/or possible aspiration. Interventions may be needed for inadequate weight gain and poor feeding. [ncbi.nlm.nih.gov]

  The patients show feeding difficulties with failure in sucking and swallowing, facial weakness, and feeble cry. [ijponline.biomedcentral.com]

• Difficulty Walking

  Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. Patients may also experience difficulty breathing. [sema4.com]

  Most individuals are able to walk independently although because of progressive spinal rigidity and scoliosis they may experience difficulties walking later during life. [rarediseases.org]

• Respiratory Insufficiency

  Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. [abcam.com]

  She underwent surgery for scoliosis and had severe restrictive respiratory insufficiency. She had an older brother with CMD associated with encephalopathy, who died from pneumopathy at the age of three. [cags.org.ae]

  Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity. Progressive restrictive respiratory insufficiency occurs in all non-ambulatory persons. [ncbi.nlm.nih.gov]

• Myopathy

  Desminopathy Distal myopathy with posterior leg and anterior hand involvement Intermediate nemaline myopathy Muscle filaminopathy Scapuloperoneal amyotrophy Severe congenital nemaline myopathy Typical nemaline myopathy Aicardi-Goutières syndrome Autosomal [csbg.cnb.csic.es]

  Congenital Centronuclear Myopathy type 1. Congenital Hyaline Body Myopathy. Congenital Myotubular Myopathy. Congenital Nemaline Myopathy type 2. Congenital Fiber Type Disproportion type 1. Congenital Fiber Type Disproportion. [terkko.helsinki.fi]

  Bethlem myopathy.- Facio Scapulo Humeral Muscular Dystrophy type 1A.- Facio Scapulo Humeral Muscular Dystrophy type 2.- Section 2: Congenital Myopathies.- Congenital Multi-Mini-Core Myopathy.- Congenital Central-Core Myopathy with Malignant Hyperthermia [bokus.com]

  2 Synonyms: IBM2, Inclusion body myopathy, autosomal recessive, Inclusion body myopathy, quadriceps-sparing, QSM, Hereditary inclusion body myopathy, HIBM, Distal myopathy with rimmed vacuoles, DMRV, Nonaka myopathy, Rimmed vacuole myopathy, Quadriceps [rarediseases.info.nih.gov]

  Central Core 4 0 4 Congenital muscular dystrophy 3 0 3 Bethlem myopathy 1 2 0 2 Congenital myopathy 2 0 2 Limb-girdle muscular dystrophy, type 2B 2 0 2 Limb-girdle muscular dystrophy, type 2L 2 0 2 Myofibrillar myopathy 1 2 0 2 Congenital muscular dystrophy [clinvarminer.genetics.utah.edu]

• Muscle Weakness

  […] tone (hypotonia) and muscle weakness at birth. [rarediseases.org]

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

  Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. [abcam.com]

  Muscle shortening (contractures) occurs early in the disease. Weakness can spread to chest and pelvic muscles. The disease progresses slowly and causes less severe muscle weakness than some other forms of muscular dystrophy. [webmd.com]

  Rarely, mutations in the FKRP gene are associated with muscle eye brain disease, which causes muscle weakness, eye problems, and intellectual disability. [ghr.nlm.nih.gov]

• Proximal Muscle Weakness

  Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. [abcam.com]

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

• Lordosis

  Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. Patients may also experience difficulty breathing. [sema4.com]

  The type and location of spinal deformity: Thoracic kyphosis: collagen VI-deficient CMD Thoracic lordosis: laminin alpha-2 deficiency, SELENON -related CMD, and L-CMD; late stage of dystroglycanopathies. [ncbi.nlm.nih.gov]

• Stroke

  […] identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke [books.google.com]

  MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like). Leigh Syndrome due to COX Deficiency. Mitochondrial Encephalopathy with COX Deficiency. Coenzyme Q10 Deficiency. Multiple Symmetrical Lipomatosis. [terkko.helsinki.fi]

  MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) .- Leigh Syndrome due to COX Deficiency.- Mitochondrial Encephalopathy with COX Deficiency.- Coenzyme Q10 Deficiency.- Multiple Symmetrical Lipomatosis.- NARP (Neuropathy, Ataxia, Retinitis [bokus.com]

  […] http://www.mda.org/ Muscular Dystrophy Campaign 61 Southwark Street London, SE1 0HL United Kingdom Tel: 020 7803 4800 Email: [email protected] Internet: http://www.muscular-dystrophy.org NIH/National Institute of Neurological Disorders and Stroke [informationtherapy.in]

• Waddling Gait

  Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. [abcam.com]

  Individuals may first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs. [mda.org]

• Encephalopathy

  Encephalopathy, Early Infantile, 19 1 Epileptic Encephalopathy, Early Infantile, 2 7 Epileptic Encephalopathy, Early Infantile, 21 1 Epileptic Encephalopathy, Early Infantile, 23 1 Epileptic Encephalopathy, Early Infantile, 24 5 Epileptic Encephalopathy [preventiongenetics.com]

  MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like). Leigh Syndrome due to COX Deficiency. Mitochondrial Encephalopathy with COX Deficiency. Coenzyme Q10 Deficiency. Multiple Symmetrical Lipomatosis. [terkko.helsinki.fi]

  She had an older brother with CMD associated with encephalopathy, who died from pneumopathy at the age of three. She had a verbal IQ of 50 and cerebral atrophy. [cags.org.ae]

  MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) .- Leigh Syndrome due to COX Deficiency.- Mitochondrial Encephalopathy with COX Deficiency.- Coenzyme Q10 Deficiency.- Multiple Symmetrical Lipomatosis.- NARP (Neuropathy, Ataxia, Retinitis [bokus.com]

• Paresis

  No paresis 4600 Deltoideus (-) - - Homozygous 826C>A 12 F 20 26 46 Myalgia, proximal leg weakness 4/5 proximal arm muscles, 3/5 proximal leg muscles, 1/5 foot extensors, 3/5 foot flexors 500 Tibialis anterior Homozygous 826C>A 13 F 25 23 48 Muscle cramps [jmg.bmj.com]

  […] type 2F, Charcot-Marie-Tooth neuropathy, type 2F Charcot-Marie-Tooth disease type 2G Synonyms: CMT 2G, Charcot-Marie-Tooth disease, axonal, Type 2G, Charcot-Marie-Tooth disease, Type 4A, axonal form, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [rarediseases.info.nih.gov]

  Charcot-Marie-Tooth Disease Type 2F 5 Charcot-Marie-Tooth Disease Type 2I 5 Charcot-Marie-Tooth Disease Type 2J 5 Charcot-Marie-Tooth Disease Type 2K 4 Charcot-Marie-Tooth Disease, Axonal, Type 2O 5 Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis [preventiongenetics.com]

• Unable to Walk

  By age 10, the child may need braces for walking and by age 12, most patients are unable to walk. [15] Lifespans range from 15 to 45, though a few exceptions occur. [15] Researchers have identified the gene for the protein dystrophin, which when absent [en.wikipedia.org]

  Most patients are unable to walk or walk for only a short period of time, usually before puberty. [rarediseases.info.nih.gov]

This may simplify the diagnostic workup at least for some patients. [jmg.bmj.com]

PMID 20301468. update 2012 ^ a b c "Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests". emedicine.medscape.com. Retrieved 2016-04-28. ^ a b c "Congenital muscular dystrophy". [en.wikipedia.org]

Sections dedicated to management and treatment are also included in an effort to aid clinicians in their goal of providing better care for individuals affected by these types of malformations. * A single source that encompasses the various aspects of [books.google.de]

There is currently no treatment for these conditions; though optimizing and standardizing care and care delivery can promote significant gains in quality of life and survival. [clinicaltrials.gov]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.ro]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

If you or your child has been told the diagnosis is SMA but it’s not the chromosome 5-related type, talk with your doctor and perhaps a genetic counselor to find out more about the genetics and prognosis for the particular SMA involved. [mda.org]

[ edit ] Prognosis depends on the individual form of MD. [en.wikipedia.org]

Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder). [mda.org.au]

Chronic pain can occur, and pain management should be part of care. [ 19 ] Prognosis This depends on the type of LGMD and whether there is cardiac or respiratory involvement. In general, all types of LGMD progress with time. [patient.info]

To date, data for all CMD subtypes are insufficient to make any firm genotype / phenotype correlations or to provide definitive prognosis or anticipatory guidance based on CMD subtype. [ncbi.nlm.nih.gov]

The low call percentage or mutation detection rate for individual gene tests is due mostly to incorrect presumption of genetic etiology and suspicion of the incorrect gene. [journals.plos.org]

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. [ncbi.nlm.nih.gov]

Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures [ijponline.biomedcentral.com]

[…] girdle muscular dystrophy type 2A Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes. [wikivisually.com]

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

Other proteins involved include dystroglycan, fukutin-related protein, calpain, dysferlin and telethonin. [ 5 ] Epidemiology [ 2 ] The LGMDs individually are rare, with some forms reported in only a few families. [patient.info]

Accordingly, a prevalence for LGMD2I could be estimated that is within the range of other, more frequent muscular dystrophies. 15 However, epidemiological studies are warranted to prove this hypothesis. [jmg.bmj.com]

This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.de]

Mechanism [ edit ] In terms of the mechanism of congenital muscular dystrophy, one finds that though there are many types of CMD the glycosylation of α-dystroglycan and alterations in those genes that are involved are an important part of this conditions pathophysiology [en.wikipedia.org]

Pathophysiology The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below. [emedicine.medscape.com]

Although the pathophysiology of the white matter changes has not been completely elucidated, the majority of investigators postulate that disruption of the blood-brain barrier associated with laminin α-2 leads to increased water content, which results [spandidos-publications.com]

Protein coding - M0QYV8 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 4, for transcripts supported by an EST flagged as suspect. [ensembl.org]

Thus, overexpressing Smad7 suppresses Smad2/3 signaling, promotes muscle hypertrophy and prevents muscle wasting. [aavogen.com]

A shortage of FKRP prevents the normal glycosylation of α-dystroglycan. As a result, α-dystroglycan can no longer effectively anchor cells to the proteins and other molecules that surround them. [ghr.nlm.nih.gov]

[…] such as laxatives to prevent constipation, medication for gastroesophageal reflux (GER), and oral caloric supplements as required Trunk bracing in those with severe axial or cervical hypotonia with spinal collapse to prevent severe spinal deformities [ncbi.nlm.nih.gov]

People with MD have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. [kidshealth.org]