This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

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]

The predominant mode of presentation was a waddling gait, and difficulties in climbing stairs. Thirteen adults were homozygous for the common C826A mutation in FKRP. [pediatricneurologybriefs.com]

• Falling

  'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls [rarediseases.info.nih.gov]

  A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls. [lgmd2i.com]

  Affected children may exhibit a distinct waddling gait and may fall frequently. They may also experience difficulty running and climbing stairs. Respiratory problems have been reported with this form of LGMD, but heart abnormalities have not been. [rarediseases.org]

  Because of these difficulties, falling can occur on a regular basis. Lifting certain objects, as well as difficulty extending your arms out or above your head, varies from difficult to impossible depending on the severity. [en.wikipedia.org]

  There are no recurrent falls, dysphasia, respiratory or speech difficulty, and he has never had a seizure or stroke. He is not a diabetic or thyroid disease patient, and he does not take alcohol or steroids. [chs-journal.com]

• Difficulty Climbing Stairs

  They may also experience difficulty running and climbing stairs. Respiratory problems have been reported with this form of LGMD, but heart abnormalities have not been. [rarediseases.org]

  climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls 0002359 Motor delay 0001270 Reduced muscle fiber merosin 0030092 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

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

• 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. [sema4genomics.com]

  [ more ] 0002515 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls 0002359 Motor delay 0001270 [rarediseases.info.nih.gov]

  LGMD has an autosomal pattern of inheritance and currently has no known cure or treatment. [6] [7] Signs and symptoms [ edit ] The symptoms of an individual with Limb-girdle Muscular Dystrophy (LGMD) generally has great difficulty walking, going both [en.wikipedia.org]

• Dyspnea

  A year ago, besides her musculoskeletal complaints, she also noted gradual onset of easy fatigability and started complaining of intermittent episodes of exertional dyspnea. She denied any syncope, angina, orthopnea or paroxysmal nocturnal dyspnea. [pubs.sciepub.com]

• Proximal Muscle Weakness

  Proximal muscles are the muscles that are closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. Muscle weakness may spread from the proximal muscles to affect distal muscles. [rarediseases.org]

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

  Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. [paperity.org]

  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]

  0008981 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Pelvic girdle muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% [rarediseases.info.nih.gov]

• Myalgia

  In 15 out of 20 (75%) patients, myalgia and rhabdomyolysis were the first signs of the disease. Patients frequently complained about muscle cramps, predominantly in calf muscles, and exercise-induced muscle pain. [jmg.bmj.com]

  Five patients had symptoms in childhood, including a peculiar gait, inability to run, muscle cramps, and myalgia. The remaining 11 patients had onset of symptoms in the 2 nd to 4 th decades. [pediatricneurologybriefs.com]

  0002355 Hyperlordosis Prominent swayback 0003307 Kyphosis Hunched back Round back [ more ] 0002808 Left ventricular dysfunction 0005162 Macroglossia Abnormally large tongue Increased size of tongue Large tongue [ more ] 0000158 Muscle spasm 0003394 Myalgia [rarediseases.info.nih.gov]

  Mutations in the FKRP gene encoding the fukutin-related protein (FKRP) cause a wide spectrum of myopathies, ranging from severe forms of congenital muscular dystrophies associated with structural abnormalities of the central nervous system, to exertional myalgia [pubmed.ncbi.nlm.nih.gov]

  Patients may also present with elevation of CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease. [emedicine.medscape.com]

• Muscular Atrophy

  He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. Dr. H. [books.google.com]

  ATROPHIES & MOTOR NEURON DISEASES Spinal muscular atrophy, type I-IV (SMN1) Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB) Spinal muscular atrophy with respiratory distress (IGHMBP2) Spinal and bulbar muscular atrophy, X-linked [meduniwien.ac.at]

  atrophy 134 ORPHA83419 G12.1 253400 Kennedy disease 11 ORPHA481 G12.1 313200 Ullrich disease 3 ORPHA75840 G71.2 120220 Lesch-Nyhan syndrome 6 ORPHA510 E79.1 300322 Malignant hyperthermia 6 ORPHA423 T88.3 145600 Myotonia congenita 5 ORPHA614 G71.1 255700 [catalogue.rd-connect.eu]

  A heterogeneous group of genetic disorders characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive. [icd10data.com]

  atrophy, acid maltase deficiency and other metabolic disorders). [annalsofian.org]

• 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. [sema4genomics.com]

  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]

  Additional abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis), thickening and shortening of tissue that cause deformity and [rarediseases.org]

  […] strength in distal arms; LGMD2M FKTN / Fukutin Early childhood Very high Moderate Legs > arms; mild to moderate facial involvement LGMD2N POMT2 / protein O-mannosyl transferase 2 Early childhood High Slow Calf hypertrophy; scapular winging; skeletal lordosis [now.aapmr.org]

• Hypertrophy of Calf Muscles

  of certain muscles such as the calf muscle. [rarediseases.org]

• Waddling Gait

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

  gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent [rarediseases.info.nih.gov]

  The predominant mode of presentation was a waddling gait, and difficulties in climbing stairs. Thirteen adults were homozygous for the common C826A mutation in FKRP. [pediatricneurologybriefs.com]

  Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area). [rarediseases.org]

  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]

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

At this stage, there are several strategies that depend on the clinical data generated by the initial workup, the geographic/ethnic origin of the patients and the availability and quality of muscle sampling. [annalsofian.org]

While magnetic resonance imaging (MRI) can have a role in the diagnostic workup of patients with inherited muscle diseases [7] – [10], with MRI changes sometimes predating clinical/functional changes [11], this is less important than genetic profiling [journals.plos.org]

The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. [books.google.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

The search for treatments and cures for this disease faces funding and study challenges. [lgmd2ifund.org]

LGMD-R9 is characterized by a proximal girdle deficit predominantly in the lower limbs to start with, with respiratory and cardiac damage that may affect the vital prognosis. [pubmed.ncbi.nlm.nih.gov]

[…] 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]

During her course, she did not show any improvement in her clinical status and was declared by multidisciplinary team specialist to have grave prognosis. Her family decided to initiate comfort care measures, thereafter, patient eventually expired. [pubs.sciepub.com]

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

During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle [clinicaltrials.gov]

Onset and severity of symptoms vary widely and are, to some extent, dependent upon the molecular etiology of the disease. Phenotypes for ten of the fifteen known LGMD genes are autosomal recessive. [journals.lww.com]

Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. [springermedizin.de]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012; 71 :141–5. [ PubMed : 22275259 ] Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dinçer P. [ncbi.nlm.nih.gov]

Etiology Currently, there are more than 30 different known LGMDs including the eight dominant (LGMD1A-H) and 23 recessive (LGMD2A-Y) types. [now.aapmr.org]

[…] syndrome Synonym(s): - LGMD2I - Limb girdle muscular dystrophy due to FKRP deficiency Classification (Orphanet): - Inborn errors of metabolism - 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]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Thompson R, Straub V. [now.aapmr.org]

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]

As diagnostic testing begins to be systematically applied in different countries, the epidemiology of these diseases can increasingly be understood, and a variable pattern of disease frequency will be elucidated. [neurologyindia.com]

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

Laminopathies affecting skeletal and cardiac muscles: Clinical and pathophysiological aspects. Acta Myol 2005;24:104-9. [ PUBMED ] 14. Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. [neurologyindia.com]

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

This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2. [pubs.sciepub.com]

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]

Passive range of motion is important for prevention of contractures. [now.aapmr.org]

The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures (freezing of the joints). [lgmd2i.com]

ACE inhibitors are certainly helpful to treat and presumably to prevent, cardiomyopathy in some specific LGMDs (LGMD2I, LGMD2C and maybe others). [annalsofian.org]