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Muscular Dystrophy-Dystroglycanopathy Type C4

FKTN-Related Limb-Girdle Muscular Dystrophy-Dystroglycanopathy


Presentation

  • It is also not present among any of the 295 patients with FKTN sequence variants described in the Leiden database.[ncbi.nlm.nih.gov]
  • Cardiac disease may be present in up to 33%.[emedicine.medscape.com]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
  • An algorithm has been presented to help the clinical evaluation [Algorithm 1].[annalsofian.org]
  • Reaching a diagnosis involves combining information from the clinical presentation and various investigations, mainly serum creatine kinase (CK), muscle biopsy and genetic testing.[patient.info]
Epilepsy
  • Greatly expanded sections to increase your knowledge of perinatal acquired and congenital disorders, neurodevelopmental disabilities, pediatric epilepsy, and nonepileptiform paroxysmal disorders and disorders of sleep.[books.google.de]
  • […] and Ragged Red Muscle Fibers MERRF/MELAS overlap disease Myoclonic Epilepsy and Psychomotor Regression Progressive Encephalopathy Epilepsy, Strokes, Optic atrophy, & Cognitive decline Leigh Disease (Maternally Inherited Leigh Syndrome) Kearns-Sayre Syndrome[meduniwien.ac.at]
  • […] with febrile seizures plus, type 1 Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 7 Glycogen storage disease of heart, lethal congenital Glycogen storage disease type 4 Gorlin syndrome Grebe[pentacorelab.hu]
  • DEPDC5 Synonym(s): DEP.5; FFEVF The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci ( FFEVF ) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy ( ADNFLE ) (MedGEN UID: 432738).[invitae.com]
  • Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects.[emedicine.medscape.com]
Pathologist
  • The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening.[books.google.de]
  • […] specialize in mental health and emotional issues Therapists : Occupational therapists Physical therapists Respiratory therapists Other Healthcare Professionals Dietitians and nutritionists Genetic counselors Psychologists Social workers Speech-language pathologists[lgmd-info.org]
Fishing
  • First, an electric skillet is intended to cook daily foodstuffs such as omelets, chicken, soup, meat, grilled cheese sandwiches, and fish fry. There is one thing you should know about electric skillets.[musclegenetable.org]
Pneumonia
  • He has been hospitalized once for pneumonia. CK levels have ranged between 1865 and 12,131 IU/L. Patient 2 is the older brother of patient 1. He was referred at 4 years of age, after his brother’s diagnosis was made.[ncbi.nlm.nih.gov]
Failure to Thrive
  • At 13 months of age, he was seen in the metabolic clinic for failure to thrive and elevated transaminases. His height and weight were both below the 3rd percentile. Head circumference was between the 25th and 50th percentiles.[ncbi.nlm.nih.gov]
Heart Disease
  • NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 Del Dup NGS Congenital heart[ctgt.net]
  • Congenital Heart Disease 42 genes Invitae Congenital Heart Disease Panel Order This panel tests 42 genes associated with isolated and syndromic causes of congenital heart disease, including some genes associated with heterotaxy that have specifically[invitae.com]
Proximal Muscle Weakness
  • LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common.[patient.info]
  • His immediate younger sister has similarly complaints of proximal muscle weakness and an abnormal gait but no cardiac symptoms. Both parents and the other four siblings are not affected.[chs-journal.com]
  • Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X); also called dilated cardiomyopathy with mild or no proximal muscle weakness.[mybiosource.com]
  • Nalini et al. [78] identified two such patients who had lower-limb proximal muscle weakness with foot drop, severe wasting of tibialis anterior.[annalsofian.org]
  • History Autosomal recessive LGMD All patients have a history of progressive, proximal muscle weakness. Described below are the major distinguishing characteristics.[emedicine.medscape.com]
Lordosis
  • Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.[lgmd-info.org]
  • Mild lumbar lordosis has been documented in the elder of our two patients, but not in the siblings described by Godfrey et al. One of these children, however, was reportedly born with congenital dislocation of the hip.[ncbi.nlm.nih.gov]
  • Affected individuals may also have an abnormally curved lower back ( lordosis ) or a spine that curves to the side ( scoliosis ). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.[ghr.nlm.nih.gov]
  • Children walk with waddle and exhibit lordosis. Cardiac involvement is known but not as common or prominent as in dystrophinopathies.[annalsofian.org]
Encephalopathy
  • Coverage of new, emerging, or controversial topics includes developmental encephalopathies, non-verbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities.[books.google.de]
  • (PAFAH1B1) MITOCHONDRIAL DISORDERS (NUCLEAR GENES) Progressive external ophthalmoplegia, with mtDNA deletions, autosomal dominant 1 (POLG) Progressive external ophthalmoplegia, with mtDNA deletions, autosomal recessive (POLG) Alpers syndrome (POLG) Encephalopathy[meduniwien.ac.at]
  • […] muscular dystrophy 1E (LGMD1E) [MIM: 603511 ] DNAJC5 Q9H3Z4 non-pleiotropic Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM: 162350 ] DNAL1 Q4LDG9 non-pleiotropic Ciliary dyskinesia, primary, 16 (CILD16) [MIM: 614017 ] DNM1L O00429 non-pleiotropic Encephalopathy[sbg.bio.ic.ac.uk]
  • […] hereditary motor neuropathy type 5 - DHMN Dysautonomia familial - Riley Day syndrome Dystonia 1 torsion - DYT1 Dystonia 11 myoclonic - DYT11 Dystonia 6 torsion - DYT6 Dystonia-parkinsonism, rapid-onset - DYT12 Dystonia-Parkinsonism, X-linked - DYT3 Epileptic encephalopathy[agdx.portal.cartagenia.com]
  • PCDH19 Synonym(s): EFMR; EIEE9 The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393).[invitae.com]
Gowers Sign
  • sign 0003391 Increased variability in muscle fiber diameter 0003557 Myopathic facies 0002058 Myopathy Muscle tissue disease 0003198 Pelvic girdle muscle weakness 0003749 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have[rarediseases.info.nih.gov]
  • Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'.[patient.info]
Excitement
  • It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.[books.google.de]
  • MDA-supported scientists are pursuing several exciting strategies in muscular dystrophy research that have implications for LGMD. These strategies include gene therapy, exon skipping, stop codon read through and myostatin blocking.[mda.org]

Workup

  • Initial workup was remarkable for an elevated CK of 3110 IU/L. ALT and AST were slightly increased at 96 U/L (nl 9–80 U/L) and 77 U/L (nl 1–55 U/L), respectively. An acylcarnitine profile, carnitine levels and urine organic acids were normal.[ncbi.nlm.nih.gov]

Treatment

  • Coverage of new, emerging, or controversial topics includes developmental encephalopathies, non-verbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities.[books.google.de]
  • More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2E is available below.[checkorphan.org]
  • Treatment: No known treatment is available. Prognosis: An active lifestyle is not possible in this disease much beyond the first decade.[wohproject.org]
  • There is no cure or specific treatment for this disorder.[natera.com]

Prognosis

  • Prognosis - Limb-girdle muscular dystrophy- type 2E Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes. However, there are also various other causes.[checkorphan.org]
  • Prognosis: An active lifestyle is not possible in this disease much beyond the first decade. Life expectancy with good supportive care is good, however, since many individuals live to adulthood and one patient lived into the seventh decade.[wohproject.org]
  • 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]
  • Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder).[mda.org.au]

Etiology

  • Dvořáčková Pavla Solařová Lenka Fajkusová Open Access Research article First Online: 19 August 2014 2.6k Downloads 9 Citations Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology[link.springer.com]
  • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M.[emedicine.medscape.com]

Epidemiology

  • Walker-Warburg syndrome Proximal myotonic myopathy Synonym(s): - LGMD2M Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for FKTN Genetic Association Database (GAD) FKTN Human Genome Epidemiology (HuGE) Navigator FKTN Atlas of Genetics and Cytogenetics in Oncology and Haematology: FKTN No data available for Genatlas for FKTN Gene Congenital muscular[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]
Sex distribution
Age distribution

Pathophysiology

Prevention

  • Heavy gauge stuff with a solid base Pans and pots need to be heavy enough to transfer heat evenly and prevent foods from scorching. Cast iron transfers heat well.[musclegenetable.org]
  • Causes - Limb-girdle muscular dystrophy- type 2E * Leg disorders * Hip disorders * Knee disorders * Brain disorders * Balance disorders - see causes of balance disorders Inner ear infection Vitamin B12 deficiency * Vision disorders * Nerve disorders Prevention[checkorphan.org]
  • A physiotherapist can recommend stretches to keep joints supple and if necessary special splints (orthoses) to prevent muscle shortening (contractures) which are common in some types of LGMD.[mda.org.au]
  • Management [ 2 ] There is no specific therapy for LGMD. [ 14 ] Nondrug treatment Physiotherapy to prevent contractures, using passive stretching, exercise therapy, orthoses. [ 15 ] Exercise - the role of exercise in LGMD is controversial, but guidelines[patient.info]
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency) is an autosomal recessive disorder that prevents the body from breaking down certain fats to energy, particularly during periods of fasting, illness, or exercise.[natera.com]

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