{"Name":"Myopathy, distal, 5","DiseaseID__c":"GARD:0017878","id":17878,"encodedName":"myopathy-distal-5","IsDeleted":false,"Disease_Name_Full__c":"Myopathy, distal, 5","Xref_IDs__c":"C206521; C5567521; MEDGEN:1798944; MONDO:0014877; OMIM:617030; ORPHA:482601","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Description_Source__c":"MONDO:0014877","Disease_Description__c":"Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.","GARD_Name__c":"Myopathy, distal, 5","GARD_Synonym__c":"adenylosuccinate synthetase-like 1-related distal myopathy; adssl1 distal myopathy; adssl1-related distal myopathy; distal myopathy caused by mutation in adssl1; mpd5; myopathy, distal, 5; mpd5; myopathy, distal, type 5","Curated_Disease_Description_Source__c":"ORPHA:482601","Curated_Disease_Description__c":"A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:482601","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014877","ORPHANET_ID__c":"ORPHA:482601","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía distal asociada a adenilosuccinato sintetasa de tipo 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía distal asociada a adenilosuccinato sintetasa de tipo 1","Spanish_GARD_Synonym__c":"miopatía distal asociada a adssl1","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 autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.","Curated_Disease_Description_Source__c":"ORPHA:482601","GARD_Synonym__c":"adenylosuccinate synthetase-like 1-related distal myopathy; adssl1 distal myopathy; adssl1-related distal myopathy; distal myopathy caused by mutation in adssl1; mpd5; myopathy, distal, 5; mpd5; myopathy, distal, type 5","Name":"Myopathy, distal, 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure ADSSL1","Website__c":"https://www.cure-adssl1.org/index.html"},{"Account_Name__c":"Cure Rare Disease","Website__c":"https://www.cureraredisease.org"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:482601"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:482601"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798944","Source__c":"C5567521","Xref__c":"MEDGEN:1798944"},{"URL__c":"https://www.orpha.net/en/disease/detail/482601","Source__c":"C5567521; MONDO:0014877; ORPHA:482601","Xref__c":"ORPHA:482601"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567521","Source__c":"C5567521","Xref__c":"C5567521"},{"URL__c":"https://www.omim.org/entry/617030","Source__c":"C5567521; MONDO:0014877; ORPHA:482601","Xref__c":"OMIM:617030"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014877","Source__c":"GARD:0017878","Xref__c":"MONDO:0014877"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172694007","Source__c":"C5567521","Xref__c":"1172694007"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206521","Source__c":"C5567521","Xref__c":"C206521"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADSS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005216","HPO_Synonym__c":"Chewing difficulties; Chewing difficulty; Difficulty chewing","HPO_Name__c":"Impaired mastication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003731","HPO_Synonym__c":"Quadriceps weakness","HPO_Name__c":"Quadriceps muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008959","HPO_Name__c":"Distal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034391","HPO_Name__c":"Elbow contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of air a person can expel following maximal inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032341","HPO_Synonym__c":"Decreased forced vital capacity; Reduced FVC","HPO_Name__c":"Reduced forced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031108","HPO_Name__c":"Triceps weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting the lower limb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007210","HPO_Name__c":"Lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","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:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of the muscles involved in chewing 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:0030193","HPO_Name__c":"Fatigable weakness of chewing muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009129","HPO_Synonym__c":"Amyotrophy involving the upper limbs","HPO_Name__c":"Upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the quadriceps muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009050","HPO_Synonym__c":"Wasting of quad muscles","HPO_Name__c":"Quadriceps muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030319","HPO_Synonym__c":"Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature","HPO_Name__c":"Weakness of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003700","HPO_Synonym__c":"Diffuse amyotrophy; Diffuse muscle atrophy; Diffuse muscle wasting; Diffuse skeletal muscle wasting; Generalized muscle atrophy; Generalized muscle degeneration; Muscle atrophy, diffuse; Muscle atrophy, generalized; Muscular atrophy, generalized","HPO_Name__c":"Generalized amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002200","HPO_Synonym__c":"Pseudobulbar symptoms","HPO_Name__c":"Pseudobulbar signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003798","HPO_Synonym__c":"Nemaline rods","HPO_Name__c":"Nemaline bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034677","HPO_Name__c":"Ankle contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","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:482601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031237","HPO_Name__c":"Internally nucleated skeletal muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["adenylosuccinate synthetase-like 1-related distal myopathy"," adssl1 distal myopathy"," adssl1-related distal myopathy"," distal myopathy caused by mutation in adssl1"," mpd5"," myopathy, distal, 5"," mpd5"," myopathy, distal, type 5"]}