Abstract Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. [nature.com]

Type II was defined as having late onset (older than 35 years), with rapidly developing symptoms and muscle weakness that was more prominent than spasticity. [medlink.com]

Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. [ghr.nlm.nih.gov]

Nonetheless, not all patients reach an apparent “leveling off” or functional plateau but instead experience continuous worsening of walking ability due to very slowly progressive muscle weakness and tightness. [rarediseases.org]

Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging. [nature.com]

Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 45, 445–449 (2013). 10. Salinas, S., Proukakis, C., Crosby, A. & Warner, T. T. [nature.com]

The KCNA2 gene was previously identified in patients with epileptic encephalopathies. [epilepsygenetics.net]

[…] of childhood Familial acute necrotizing encephalopathy Generalized congenital lipodystrophy with myopathy Congenital myopathy with excess of thin filaments Idiopathic pulmonary fibrosis Intermediate nemaline myopathy Severe congenital nemaline myopathy [csbg.cnb.csic.es]

Charcot-Marie-Tooth Disease Familial Cervical Artery Dissection Gitelman Syndrome Glut1 Deficiency Syndrome 1 Ichthyosis, Congenital, Autosomal Recessive 2 Inhalational Botulism Mitochondrial DNA Depletion Syndrome 4A (Alpers Type) Pineoblastoma Steroid-Responsive Encephalopathy [familydiagnosis.com]

3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy [centogene.com]

Affiliated tissues include globus pallidus, and related phenotypes are lower limb hyperreflexia and babinski sign Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome 4q25. [malacards.org]

Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

Babinski sign was negative. Video gait analysis was performed, which showed internal rotation of the hips and feet while walking and running. When walking barefooted she dragged the upper side of her toes, this was more pronounced when running. [omicsonline.org]

III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity Limb ataxia Thigh muscle atrophy Patellar Tendon Reflex (PTR) Achilles Tendon Reflex (ATR) Babinski sign Vibration sense Normal Normal Sphincter involvement Mini-Mental State Examination [intechopen.com]

Primary lateral sclerosis The age of onset for primary lateral sclerosis (PLS) is usually between 40 and 60 years, with spasticity in the legs accompanied by hyperactive deep tendon reflexes, clonus, and Babinski sign. [emedicine.medscape.com]