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]

It usually presents within the first decade of life. The most common presenting complaint is primarily myalgia, followed by ‘rippling muscles’ and proximal muscle weakness [ 68 ]. [content.iospress.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]

• Congestive Heart Failure

  heart failure and arrhythmia. [genecards.org]

  Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the LicD transferase family. [mybiosource.com]

  Severely abnormal ejection fraction can occur in about 10% of patients and may cause symptomatic congestive heart failure. Rhythm abnormalities are not present. [emedicine.medscape.com]

• Asymptomatic

  The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade. [checkorphan.org]

  This is a common cause of asymptomatic hyperCKemia. [emedicine.medscape.com]

  This is milder variant with early age of onset HyperCKemia in which asymptomatic individuals have only high serum creatine kinase (CK) concentrations. Usually, it occurs in young children. [annalsofian.org]

• Difficulty Climbing Stairs

  Symptoms that might be noticed first include frequent falls and difficulty climbing stairs, running and rising from the floor. [mda.org.au]

• Respiratory Insufficiency

  May have cardiac and respiratory complications - in some cases, the cardiac muscle is more affected than the skeletal muscle; [ 26 ] diaphragmatic involvement may cause respiratory insufficiency while still ambulant. [patient.info]

  Other features can include neck flexor weakness, facial weakness, scapular winging, respiratory insufficiency, ankle contractures, and cramps. [emedicine.medscape.com]

• 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]

• Proximal Muscle Weakness

  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]

  Patients generally present with slowly progressive weakness and wasting restricted to the proximal muscles. The occurrence of the cardiac disease varies with the genotype. [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]

  Heterogeneity is seen between subtypes in presenting complaint, most but not all, experience proximal muscle weakness or myalgia. [content.iospress.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]

• 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]

  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]

  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]

  Children walk with waddle and exhibit lordosis. Cardiac involvement is known but not as common or prominent as in dystrophinopathies. [annalsofian.org]

• Myopathic Facies

  Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Gowers sign 0003391 Increased variability in muscle fiber diameter 0003557 Myopathic [rarediseases.info.nih.gov]

• Seizure

  WalkerWarburg syndrome is characterized by severe brain malformations, muscle weakness, hypotonia, feeding difficulties, seizures, blindness, and male genital anomalies. [sema4genomics.com]

  Signs and symptoms of Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. [natera.com]

  […] febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures ( ICE-GTC ) (MedGen UID: 148243). [invitae.com]

  […] 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 syndrome Growth mental [pentacorelab.hu]

  Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy. [mybiosource.com]

• Gowers Sign

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [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]

• Generalized Tonic-Clonic Seizure

  […] febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures ( ICE-GTC ) (MedGen UID: 148243). [invitae.com]

• Convulsions

  IFITMD1; PKC The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions [invitae.com]

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]

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]

"Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi : 10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. [en.wikipedia.org]

[…] after treatment with rituximab. [ 17 ] Complications and their management [ 2, 8 ] Complications vary, depending on the specific LGMD and on individual variations in the clinical picture. [patient.info]

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]

[…] corticosteroids in LGMD 2C-F individuals, shows some improvement [9] Additionally individuals can follow management that follows: [3] Occupational therapy Respiratory therapy Speech therapy Neutralizing antibody to myostatin should not be pursued In terms of the prognosis [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]

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]

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]

Classification and epidemiology All form of LGMD are inherited autosomally and the classification is alphanumeric with assignation of number ‘1’ or ‘2’ depending on whether they are inherited dominantly or recessively. [content.iospress.com]

^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]

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]

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]

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]