{"Name":"Myofibrillar myopathy 4","DiseaseID__c":"GARD:0001886","id":1886,"encodedName":"myofibrillar-myopathy-4","IsDeleted":false,"Disease_Name_Full__c":"Myofibrillar myopathy 4","Xref_IDs__c":"C4721886; C563718; DOID:0080095; MEDGEN:1648314; MONDO:0012277; OMIM:609452; ORPHA:98912","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012277","Disease_Description__c":"A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.","GARD_Name__c":"Myofibrillar myopathy 4","GARD_Synonym__c":"late-onset distal myopathy, markesbery-griggs type; ldb3 myofibrillar myopathy (disease); myofibrillar myopathy (disease) caused by mutation in ldb3; myofibrillar myopathy type 4; myopathy, myofibrillar, type 4; zasp-related myofibrillar myopathy; zaspopathy; zaspopathy (type)","Curated_Disease_Description_Source__c":"MEDGEN:C1836155","Curated_Disease_Description__c":"A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:98912","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012277","ORPHANET_ID__c":"ORPHA:98912","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía distal de inicio tardío tipo maskerbery-griggs","Spanish_Description_Source__c":"ORPHA:98912","Spanish_Description__c":"Es una miopatía miofibrilar no distrófica, genética y poco frecuente, caracterizada por el inicio en la edad adulta tardía de debilidad muscular distal y/o proximal de las extremidades, con afectación inicial de los músculos posteriores de la parte inferior de las piernas, el gastrocnemio medial y el sóleo. Los afectados presentan debilidad del tobillo, seguida por debilidad de los extensores de los dedos de la mano y la muñeca que progresa posteriormente a los músculos proximales. La deambulación suele estar preservada. En un reducido número de casos, se ha descrito cardiomiopatía y/o neuropatía de inicio tardío.","Spanish_Disease_Name__c":"miopatía distal de inicio tardío tipo maskerbery-griggs","Spanish_GARD_Synonym__c":"miopatía miofibrilar ligada a zasp","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10.","Curated_Disease_Description_Source__c":"MEDGEN:C1836155","GARD_Synonym__c":"late-onset distal myopathy, markesbery-griggs type; ldb3 myofibrillar myopathy (disease); myofibrillar myopathy (disease) caused by mutation in ldb3; myofibrillar myopathy type 4; myopathy, myofibrillar, type 4; zasp-related myofibrillar myopathy; zaspopathy; zaspopathy (type)","Name":"Myofibrillar myopathy 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98912"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001886","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4721886","Source__c":"C4721886","Xref__c":"C4721886"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563718","Source__c":"MONDO:0012277","Xref__c":"C563718"},{"URL__c":"https://www.omim.org/entry/609452","Source__c":"C4721886; MONDO:0012277; ORPHA:98912","Xref__c":"OMIM:609452"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080095","Source__c":"MONDO:0012277","Xref__c":"DOID:0080095"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648314","Source__c":"C4721886","Xref__c":"MEDGEN:1648314"},{"URL__c":"https://www.orpha.net/en/disease/detail/98912","Source__c":"C4721886; MONDO:0012277","Xref__c":"ORPHA:98912"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012277","Source__c":"GARD:0001886","Xref__c":"MONDO:0012277"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LDB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ldb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009072","HPO_Synonym__c":"Hyporeflexia at ankle joints","HPO_Name__c":"Decreased Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of strength of the proximal muscles that becomes progressively more severe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009073","HPO_Synonym__c":"Muscle weakness, progressive, proximal","HPO_Name__c":"Progressive proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030198","HPO_Name__c":"Fatigable weakness of distal limb muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005162","HPO_Synonym__c":"Impaired left ventricular function; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Left-sided heart failure","HPO_Name__c":"Abnormal left ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008954","HPO_Name__c":"Intrinsic hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008969","HPO_Name__c":"Leg muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003325","HPO_Synonym__c":"Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle","HPO_Name__c":"Limb-girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Inability to walk in a person who previous had the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002505","HPO_Synonym__c":"Loss of ability to walk","HPO_Name__c":"Loss of ambulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031189","HPO_Name__c":"Wrist drop","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009005","HPO_Name__c":"Weakness of the intrinsic hand muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the muscles that lift or otherwise move the foot at the ankle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031374","HPO_Name__c":"Ankle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Decreased intensity of the patellar reflex (also known as the knee jerk reflex).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011808","HPO_Synonym__c":"Decreased knee jerk reflex; Decreased patellar reflexes","HPO_Name__c":"Decreased patellar reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012722","HPO_Name__c":"Heart block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009077","HPO_Name__c":"Weakness of long finger extensor muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98912","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["late-onset distal myopathy, markesbery-griggs type"," ldb3 myofibrillar myopathy (disease)"," myofibrillar myopathy (disease) caused by mutation in ldb3"," myofibrillar myopathy type 4"," myopathy, myofibrillar, type 4"," zasp-related myofibrillar myopathy"," zaspopathy"," zaspopathy (type)"]}