Statements (392)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
gptkb:muscular_dystrophy |
| gptkbp:advancements_in_research |
gptkb:CRISPR_technology
clinical trials gene editing |
| gptkbp:advocacy |
gptkb:Cure_SMA
gptkb:SMA_Europe gptkb:SMA_Foundation important for funding research |
| gptkbp:affects |
quality of life
motor neurons both genders infants muscle strength muscles myelin sheath muscles of the hips and shoulders skeletal muscles |
| gptkbp:associated_with |
gptkb:diabetes
gptkb:Cardiology gptkb:depression anxiety fatigue sleep disturbances respiratory failure vision problems hearing loss joint pain increased risk of cancer muscle weakness difficulty breathing difficulty swallowing sudden cardiac death cataracts respiratory issues insulin resistance increased risk of infections cognitive impairment dysphagia increased risk of heart disease skin changes fatty liver disease scoliosis hypogonadism baldness joint contractures increased risk of blood clots increased risk of stroke gastrointestinal problems increased risk of autoimmune diseases increased risk of metabolic disorders increased risk of psychiatric disorders delayed motor milestones myotonia cardiac conduction defects increased risk of fractures increased risk of kidney disease increased risk of liver disease increased risk of neurological disorders increased risk of osteoporosis increased risk of thyroid disease bulbar weakness long-chain fatty acids accumulation |
| gptkbp:breeding_range |
5q13.2
|
| gptkbp:can_detect |
gptkb:MRI
ultrasound |
| gptkbp:can_lead_to |
respiratory complications
mobility issues early mortality wheelchair dependence |
| gptkbp:cause |
genetic mutations
|
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
genetic mutations CTG repeat expansion mutation in the ABCD1 gene |
| gptkbp:clinical_trial |
available
cognitive decline fatigue ongoing difficulty walking seizures hearing loss ataxia muscle weakness respiratory distress visual impairment behavioral changes tremors ongoing for new treatments dysphagia hypotonia autonomic dysfunction ongoing for various treatments spasticity ongoing for better understanding twitching muscles delayed motor milestones gait disturbances aims to find new treatments focuses on genetic aspects difficulty lifting head poor reflexes weak grip |
| gptkbp:condition |
gptkb:Cardiology
respiratory issues scoliosis |
| gptkbp:diagnosis |
gptkb:MRI
varies variable blood tests genetic testing family history clinical evaluation MRI scans MRI scan muscle biopsy electromyography |
| gptkbp:discovered_by |
gptkb:Dr._Guido_Werdnig
gptkb:Dr._Johann_Hoffmann 1909 |
| gptkbp:educational_resources |
for patients and families
|
| gptkbp:financial_support |
gptkb:educational_resources
support groups online forums psychological support advocacy organizations nutritional guidance important for patients and families physical activity recommendations |
| gptkbp:first_described_by |
gptkb:20th_century
gptkb:Werdnig-Hoffmann_disease 1861 1860s in 1923 Hans Gustav Adolf Steinert |
| gptkbp:gender |
more common in males
|
| gptkbp:genetic_locus |
gptkb:CAPN3
gptkb:COL6_A1 gptkb:COL6_A2 gptkb:COL6_A3 gptkb:POMT1 TTN DYSF FKRP SGCA POMGNT1 |
| gptkbp:genetic_studies |
prenatal testing
recommended newborn screening carrier testing recommended for families recommended for affected families can identify mutations available for families at risk |
| gptkbp:has_type |
gptkb:CMD_with_dystroglycanopathy
gptkb:CMD_with_laminin_alpha_2_deficiency gptkb:merosin-deficient_CMD congenital muscular dystrophy with brain involvement collagen VI-related CMD integrin alpha 7-related CMD |
| https://www.w3.org/2000/01/rdf-schema#label |
muscular dystrophy
|
| gptkbp:impact |
gptkb:independence
mental health employment opportunities mobility quality of life social interactions employment challenges family dynamics emotional challenges life expectancy educational needs mobility issues independence loss |
| gptkbp:inherits_from |
autosomal dominant
autosomal recessive inheritance X-linked autosomal recessive X-linked recessive X-linked inheritance |
| gptkbp:is_a_resource_for |
available for assistance
|
| gptkbp:is_affected_by |
gptkb:children
adults |
| gptkbp:is_associated_with |
gptkb:Cardiology
seizures intellectual disability cognitive impairment scoliosis cardiac issues brain abnormalities |
| gptkbp:is_characterized_by |
family history
muscle stiffness early diagnosis hypotonia progressive muscle weakness variable severity muscle degeneration clinical variability progressive weakness early onset progressive disability variable muscle involvement |
| gptkbp:is_common_in |
both genders
males all ethnicities |
| gptkbp:is_considered_as |
a genetic disorder
|
| gptkbp:is_documented_in |
gptkb:literature
gptkb:guidelines research studies patient registries |
| gptkbp:is_evaluated_by |
geneticists
pediatricians neurologists |
| gptkbp:is_involved_in |
gptkb:local_chapters
family support online communities available for patients |
| gptkbp:is_managed_by |
pediatricians
rehabilitation specialists neurologists multidisciplinary care genetic counselors multidisciplinary care team |
| gptkbp:is_notable_for |
support groups
clinical trials patient advocacy awareness campaigns research advancements |
| gptkbp:is_part_of |
rare diseases
muscle disorders genetic conditions neuromuscular disorders muscle pathology pediatric conditions |
| gptkbp:is_recognized_by |
gptkb:healthcare_professionals
|
| gptkbp:is_related_to |
gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy gptkb:muscular_dystrophy gptkb:Collage extracellular matrix glycoproteins dystrophin laminin |
| gptkbp:is_studied_in |
clinical research
genetic research |
| gptkbp:is_subject_to |
ongoing research
|
| gptkbp:is_tested_for |
very long-chain fatty acids
|
| gptkbp:lifespan |
varies
varies by type varies widely varies by severity |
| gptkbp:management |
requires multidisciplinary approach
|
| gptkbp:named_after |
gptkb:Guillaume_Duchenne
|
| gptkbp:pathway |
disruption of lipid metabolism
|
| gptkbp:player_development |
variable
varies by type |
| gptkbp:premiered_on |
childhood
adulthood childhood to early adulthood |
| gptkbp:prevalence |
rare
1 in 10,000 births varies by subtype 1 in 100,000 births 1 in 20,000 females 1 in 3,500 males 1 in 8,000 1 in 20,000 to 1 in 50,000 males |
| gptkbp:promoter |
gptkb:SMN2
gptkb:SMN1 |
| gptkbp:public_awareness |
research funding
fundraising efforts public education patient organizations increased advocacy important for early diagnosis |
| gptkbp:replaced_by |
gptkb:true
|
| gptkbp:research |
ongoing
ongoing clinical trials ongoing for gene therapy |
| gptkbp:research_focus |
gptkb:gene_therapy
clinical trials drug development patient registries stem cell therapy understanding pathophysiology clinical trial design improving patient outcomes natural history studies quality of life assessments psychosocial interventions biomarker identification gene therapy advancements community awareness initiatives symptom management advocacy for funding understanding disease mechanisms multidisciplinary care approaches long-term follow-up studies exon skipping protein replacement therapy developing effective therapies identifying biomarkers adult care transitions genetic counseling advancements pediatric care improvements |
| gptkbp:research_institutes |
gptkb:FDA
gptkb:NIH biotech companies genetic research centers involved in studies muscular dystrophy associations neuromuscular clinics academic hospitals involved in studying the disorder |
| gptkbp:support |
research funding
advocacy groups patient organizations |
| gptkbp:symptoms |
fatigue
adrenal insufficiency difficulty walking learning disabilities muscle weakness difficulty swallowing sleep apnea respiratory issues muscle stiffness frequent falls mobility aids pain management strategies muscle cramps muscle wasting hypotonia joint contractures joint deformities skeletal deformities progressive neurological decline difficulty lifting objects fatigue management strategies shoulder weakness |
| gptkbp:treatment |
gptkb:gene_therapy
gptkb:onasemnogene_abeparvovec gptkb:risdiplam gptkb:surgery gptkb:nusinersen improve quality of life hormone replacement therapy medications nutritional support physical therapy prevent complications supportive care occupational therapy speech therapy corticosteroids assistive devices bone marrow transplant cardiac care respiratory support cardiac monitoring maintain mobility medications for myotonia |
| gptkbp:type_of |
gptkb:Becker_muscular_dystrophy
gptkb:LGMD1 gptkb:LGMD2 gptkb:Duchenne_muscular_dystrophy gptkb:muscular_dystrophy gptkb:SMA_type_1 gptkb:LGMD1_A gptkb:LGMD1_B gptkb:LGMD2_A gptkb:LGMD2_B gptkb:LGMD2_C gptkb:LGMD2_D gptkb:LGMD2_E gptkb:LGMD2_F gptkb:LGMD2_G gptkb:myotonic_dystrophy_type_1 gptkb:myotonic_dystrophy_type_2 gptkb:Facioscapulohumeral_muscular_dystrophy gptkb:Myotonic_dystrophy gptkb:cerebral_adrenoleukodystrophy SMA type 2 SMA type 4 SMA type 3 adrenomyeloneuropathy |
| gptkbp:bfsParent |
gptkb:ALS
gptkb:Biogen gptkb:Sangamo_Therapeutics gptkb:CRISPR-Cas9 gptkb:CRISPR_technology gptkb:the_Muscular_Dystrophy_Association |
| gptkbp:bfsLayer |
4
|