The phenotype is characterized by early onset of spastic paraplegia, mental retardation, short stature and dysgenesis of the corpus callosum. [miami.pure.elsevier.com]

Most common symptoms of SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Strabismus More info about SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 SOURCES [mendelian.co]

stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Muscular dystrophy-dystroglycanopathy FKTN Myelodysplastic syndrome, somatic TET2 Myoclonus Dystonie SGCE Myopathy due to myoadenylate deaminase deficiency AMPD1 Myotonia Congenita [meduniwien.ac.at]

Spastic paraplegia was further complicated by short stature, high arched palate and dysgenesis of the corpus callosum especially in the dorsal parts ( Figures 2a and b ). Figure 2 Cranial MRI/CT scans of DDHD2 patients. [nature.com]

2001 ) 14q22–q24 Complex 13-23 Yes – Intellectual deterioration, pigmented macula, CC and brainstem atrophy SPG20 ( Patel et al ., 2002 ) 13q12.3 Spartin Complex Early childhood Yes – Mental retardation, shortness of stature SPG21 ( Simpson et al . [academic.oup.com]

2005 ) 12p11.1–12q14 – Complex 22–42 No Yes Emotional lability, tongue tremor, mild intellectual impairment SPG27 ( Meijer et al ., 2004 ; Ribai et al ., 2006 ) 10–q22.1–q24.1 – Pure, complex 2–45 Yes Yes Mental retardation, microcephaly, facial dysmorphia [academic.oup.com]

All the affecteds suffered intellectual disability and/or developmental delay, spastic paraplegia, hyperreflexia and foot contractures. Spasticity in upper limbs and dysphasia were variably noticed. No fecal or urinary incontinence was observed. [cags.org.ae]

The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. [neurohic.com]

Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia [ajnr.org]

Other features like hypomania, a psychiatric anomaly of extreme excitement, visual impairments like strabismus or nerve optic hypoplasia, and dysarthria, a speech articulation abnormality as reported by Schuurs-Hoeijmakers et al. [ 11 ] were not observed [bmcresnotes.biomedcentral.com]

GRM1 encodes the metabotropic glutamate receptor mGluR1 which is implicated in the modulation of intracellular Ca 2 levels and neuronal excitability. [wjgnet.com]

The recent discovery of the spastin and paraplegin genes opens a new era of exciting opportunities in which we can begin to investigate the physiology of the motor system and the degenerative process it undergoes, hopefully offering opportunities for [jnnp.bmj.com]

The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. [neurohic.com]

In pure forms, clinical features consist of isolated pyramidal signs, such as brisk reflexes, Babinski sign, spasticity and motor deficit, which can be associated with sphincter disturbances and deep sensory loss. [academic.oup.com]

The finger–nose test showed cerebellar clumsiness. The patient also described mild sphincter disturbances. Distal touch/pinprick sensitivity was decreased in the legs, but vibration sense at the ankles was observed. [academic.oup.com]

He had increased reflexes in all limbs with ankles clonus and bilateral extensor plantar reflexes. There was mild wasting in the upper limbs. He reported having mild urinary urgency and painful legs. Ocular pursuit was saccadic. [academic.oup.com]