The cardinal features of Troyer syndrome include developmental delay, spastic paraparesis, dysarthria, distal amyotrophy, and short stature. [ncbi.nlm.nih.gov]

SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}. Note The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. [mybiosource.com]

All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones. They all had some difficulties in walking, with clumsy, mildly spastic gait. [cags.org.ae]

An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [icdlist.com]

The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis. [rarediseases.org]

Progressive difficulty walking is the main problem and occurs due to taut and weak muscles. This manifests initially as stumbling, stubbing the toe, catching of the feet on uneven surfaces and sidewalks, clumsy gait, or difficulty with balance. [encyclopedia.com]

Most patients present with difficulty walking or gait disturbance, noticed either by themselves or a relative. In those with childhood onset, a delay in walking is not uncommon. [jnnp.bmj.com]

(Met122ValfsTer2) in Omani, Turkish, and Filipino families [ Manzini et al 2010, Tawamie et al 2015, Butler et al 2016 ], a homozygous nonsense variant c.1369C T (p.Arg457Ter) in a Moroccan family [ Dardour et al 2017 ], and a homozygous 1-nucleotide [ncbi.nlm.nih.gov]

Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular face shape, and poor feeding. [ncbi.nlm.nih.gov]

Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 608568 Autosomal dominant MYH14 19q13.33 Deafness, autosomal dominant 4A 600652 608568 Autosomal dominant MYH2 17p13.1 Proximal myopathy and ophthalmoplegia 605637 160740 Autosomal recessive [mnglabs.com]

Troyer syndrome shares some features with ARSACS ( a utosomal r ecessive s pastic a taxia of C harlevoix- S aguenay); however, nystagmus, abnormalities of ocular movement, and mitral valve prolapse are not features of Troyer syndrome. [ncbi.nlm.nih.gov]

Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the [aetna.com]

HSP syndromes are classified as “uncomplicated” when symptoms are confined to leg weakness and tightness and urinary urgency. [rarediseases.org]

In the more severely affected, generally older, individuals, weakness of the small hand muscles was observed. Most individuals had mild weakness of the abductor pollicis brevis, abductor digiti minimi, and palmar and dorsal interossei. [ncbi.nlm.nih.gov]

Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees. [ghr.nlm.nih.gov]

[…] stature Emotional lability Additional clinical features At birth: low/low-normal birth weight, relative macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia [ncbi.nlm.nih.gov]

People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [icdlist.com]

The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present. [disorders.eyes.arizona.edu]

[…] spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia [medicbind.com]

extremity spasticity and weakness. [flybase.org]

Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. [medicbind.com]

Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. [reference.md]

All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

They all had some difficulties in walking, with clumsy, mildly spastic gait. [cags.org.ae]

If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [en.wikipedia.org]

Keywords Hereditary Spastic Paraplegia Spastic Paraparesis Primary Lateral Sclerosis Spastic Gait Hereditary Spastic Paraparesis These keywords were added by machine and not by the authors. [link.springer.com]

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus collasum in spastic gait gene 11 (SPG11). Arch Neurol 2004 ; 61 : 117 –21 Ohnishi J, Tomoda Y, Yokoyama K. [ajnr.org]

Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described. [ncbi.nlm.nih.gov]

Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities. [ajnr.org]

A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]

sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [3] This gene gives the body instructions to make a protein called spartin, which is present [rarediseases.info.nih.gov]

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]

Signs Loosing connections between motor and 2. [quizlet.com]

sign, and scoliosis; within 10 to 15 years of onset, patients have to use wheelchairs. 22 In addition to axonal sensory polyneuropathy, auditory and optic neuropathy are also frequently observed. [elsevier.es]

Excessive drooling is commonly observed in childhood and persists into adulthood in the most severely affected individuals. [ncbi.nlm.nih.gov]