{"Name":"Hereditary spastic paraplegia 55","DiseaseID__c":"GARD:0017474","id":17474,"encodedName":"hereditary-spastic-paraplegia-55","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 55","Xref_IDs__c":"723825006; C3539506; DOID:0110807; MEDGEN:761342; MONDO:0014020; OMIM:615035; ORPHA:320375","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:320375","Disease_Description__c":"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the <i>C12ORF65</i> gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.","GARD_Name__c":"Hereditary spastic paraplegia 55","GARD_Synonym__c":"autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55; hereditary spastic paraplegia type 55; spastic paraplegia 55, autosomal recessive; spg55","Curated_Disease_Description_Source__c":"ORPHA:320375","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:320375","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014020","ORPHANET_ID__c":"ORPHA:320375","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 55","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 55","Spanish_GARD_Synonym__c":"spg55","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":"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.","Curated_Disease_Description_Source__c":"ORPHA:320375","GARD_Synonym__c":"autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55; hereditary spastic paraplegia type 55; spastic paraplegia 55, autosomal recessive; spg55","Name":"Hereditary spastic paraplegia 55","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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":"Childhood","Provided_By__c":"ORPHA:320375"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/320375","Source__c":"C3539506; MONDO:0014020; ORPHA:320375","Xref__c":"ORPHA:320375"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=761342","Source__c":"C3539506","Xref__c":"MEDGEN:761342"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110807","Source__c":"MONDO:0014020","Xref__c":"DOID:0110807"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723825006","Source__c":"C3539506; MONDO:0014020","Xref__c":"723825006"},{"URL__c":"https://www.omim.org/entry/615035","Source__c":"C3539506; MONDO:0014020; ORPHA:320375","Xref__c":"OMIM:615035"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3539506","Source__c":"C3539506","Xref__c":"C3539506"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014020","Source__c":"GARD:0017474","Xref__c":"MONDO:0014020"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MTRFR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002061","HPO_Synonym__c":"Lower extremities spasticity; Lower extremity spasticity; Spastic lower extremities; Spastic lower extremity; Spastic lower limb; Spastic lower limbs; Spasticity in lower extremities; Spasticity in lower extremity; Spasticity in lower limb; Spasticity in lower limbs; Spasticity of lower extremities; Spasticity of lower extremity; Spasticity of lower limb; Spasticity of lower limbs","HPO_Name__c":"Lower limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007042","HPO_Name__c":"Focal white matter lesions","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000602","HPO_Synonym__c":"Eye muscle paralysis; Paralysis of extraocular eye movement","HPO_Name__c":"Ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced speed of conduction of the action potential along a sensory nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003448","HPO_Synonym__c":"Decreased sensory NCV; Decreased sensory nerve conduction velocities","HPO_Name__c":"Decreased sensory nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007010","HPO_Synonym__c":"Fine motor disability; Fine motor impairment; Fine motor skill dysfunction; Impaired fine motor skills","HPO_Name__c":"Poor fine motor coordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","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:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001138","HPO_Synonym__c":"Damaged optic nerve","HPO_Name__c":"Optic neuropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscle weakness affecting the tibialis anterior muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008963","HPO_Name__c":"Tibialis muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","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:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multiple congenital contractures in different body areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002804","HPO_Synonym__c":"Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures","HPO_Name__c":"Arthrogryposis multiplex congenita","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003383","HPO_Name__c":"Onion bulb formation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320375","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Hereditary Spastic Paraplegia","Peripheral Neuropathy"]},"synonyms":["autosomal recessive spastic paraplegia 55"," autosomal recessive spastic paraplegia type 55"," hereditary spastic paraplegia type 55"," spastic paraplegia 55, autosomal recessive"," spg55"]}