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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N

Muscular Dystrophy Dystroglycanopathy (Limb Girdle) Type C2


Presentation

  • They often present with both weakness and sensory loss in a “ glove and stocking” fashion.[lecturio.com]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
  • This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle, usually in late adolescence or early adulthood. Progression is slow and weakness does not always extend to the upper limbs.[sema4genomics.com]
  • 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]
  • Symptoms are present at the level of the pelvic and shoulder girdle. This may include scapular winging. The age of onset is extremely variable, mostly between 8 and 15 years, although has been reported as early and late as 2 and 40 years.[radiopaedia.org]
Weakness
  • 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]
  • Weakness of the muscles in the face (later in the disease) Weakness in the muscles of the lower legs, feet, lower arms, and hands (later in the disease) There are no known treatments that reverse the muscle weakness.[medlineplus.gov]
  • In 1884, Erb characterized a juvenile form of proximal muscle weakness.[checkorphan.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]
  • Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.[icd10data.com]
Disability
  • Complications of Muscular Dystrophies Disability and dependence on walking aids like wheelchairs due to muscular injuries and contractures. Osteopenia and osteoporosis due decreased mobilization and immobilization.[lecturio.com]
  • Please be aware that disabling cookies may result in also disabling certain functionality and features of this site, as well as other websites you visit.[varsome.com]
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy, Fukuyama type Congenital myasthenic syndromes with glycosylation defect Congenital[se-atlas.de]
  • Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Boltshauser et al., Zürich, Switzerland.[gopubmed.org]
  • Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. Ancillary treatments and support: Respiratory therapy is important when diaphragmatic weakness becomes prominent.[wohproject.org]
Physician
  • Professor of Radiology Faculty of Kasr el Enie (email) Bio Artistic in nature, physician by profession, researcher in projection, passionate in living ,....simply...a human in being. more Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation[scholar.cu.edu.eg]
  • Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy.[checkorphan.org]
  • It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function[clinicaltrials.gov]
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Pathologist
  • Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication[invitae.com]
  • PMID: 23143600 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Lordosis
  • 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]
  • He had a Gower sign in arising from the floor but was able to independently ambulate with accentuation of his lumbar lordosis in a Trendelenberg gait. Reflexes were absent throughout.[nature.com]
Foot Deformity
  • deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of diseases of the heart muscle ( cardiomyopathy ) Social and emotional support and stimulation to maximize a sense of social[rarediseases.info.nih.gov]
Dysarthria
  • The muscles of the respiratory system may also become involved in some cases resulting in difficulty swallowing (dysphagia), slurred speech (dysarthria), and breathing difficulties.[rarediseases.org]
  • […] limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2U Autosomal recessive optic atrophy, OPA7 type Autosomal recessive spastic ataxia-optic atrophy-dysarthria[se-atlas.de]
Slurred Speech
  • The muscles of the respiratory system may also become involved in some cases resulting in difficulty swallowing (dysphagia), slurred speech (dysarthria), and breathing difficulties.[rarediseases.org]
Foot Drop
  • One case is reported as presenting with foot drop - aged 41. [ 24 ] LGMD 2B (dysferlin) also known as Miyoshi myopathy Late teens, early 20s May have distal myopathy (Miyoshi myopathy). Markedly elevated CKs.[patient.info]
Spastic Quadriplegia
  • quadriplegia syndrome Congenital intrinsic factor deficiency Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital muscular[se-atlas.de]

Treatment

  • Treatment and management So far there are no specific treatments for LGMD2I, however managing the symptoms of the condition improves a person’s quality of life. Keeping mobile is important for all people affected with muscular dystrophy.[lgmd2i.com]
  • Treatment: No treatment other than physical therapy is available. Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled.[wohproject.org]
  • Treatment Treatment Options: No effective treatment is available but early indications are that FKRP gene therapy restores functional glycosylation and improves muscle functions.[disorders.eyes.arizona.edu]
  • Early and prompt treatment and early surveillance is much better than waiting for problems to occur and then trying to deal with them.[treat-nmd.eu]
  • Supportive treatment can decrease the complications of the disease. The condition is managed based on the person's symptoms.[medlineplus.gov]

Prognosis

  • The symptoms are similar to DMD but often milder, and patients are less likely to have mental retardation and have a better prognosis (30-40 years instead of teens).[lecturio.com]
  • Prognosis - Limb-girdle muscular dystrophy- type 2B Not supplied. Treatment - Limb-girdle muscular dystrophy- type 2B Not supplied. Resources - Limb-girdle muscular dystrophy- type 2B Not supplied.[checkorphan.org]
  • Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. Ancillary treatments and support: Respiratory therapy is important when diaphragmatic weakness becomes prominent.[wohproject.org]
  • Prognosis The prognosis of LGMD varies tremendously. Most people with LGMD, however do not have severe symptoms and most experience a normal lifespan. Cardiac and respiratory difficulties can, however, decrease the lifespan.[encyclopedia.com]
  • 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]

Etiology

  • 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]
  • 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]

Epidemiology

  • Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997, 34:973-977 Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, et al.[ivyunion.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

Prevention

  • Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm.[medlineplus.gov]
  • Prevention - Limb-girdle muscular dystrophy- type 2B Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2B Not supplied. Prognosis - Limb-girdle muscular dystrophy- type 2B Not supplied.[checkorphan.org]
  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.com]
  • POMT2 gene mutations that cause Walker-Warburg syndrome lead to the formation of nonfunctional POMT enzyme complexes that cannot transfer mannose to α-dystroglycan, preventing its normal glycosylation.[ghr.nlm.nih.gov]
  • Carriers do not have any symptoms since they have one unchanged gene, which produces enough normal protein to prevent the symptoms of LGMD.[encyclopedia.com]

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