Alzheimer disease Familial isolated dilated cardiomyopathy Familial renal cell carcinoma Hereditary chronic pancreatitis Idiopathic bronchiectasis Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Male infertility with normal virilization [csbg.cnb.csic.es]

Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. [en.wikipedia.org]

Other signs include clumsiness, muscle weakness and balance difficulties. Patients generally become wheelchair dependent by adolescence. Between 2 and 10 years of age, motor speech production is lost causing dysarthria, dysphagia and drooling. [orpha.net]

Symptoms - Juvenile primary lateral sclerosis The list of signs and symptoms mentioned in various sources for Juvenile primary lateral sclerosis includes the 11 symptoms listed below: * Clumsiness * Muscle spasms * Progressive leg weakness * Progressive [checkorphan.org]

Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. [ghr.nlm.nih.gov]

Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are muscle weakness and hyperreflexia Genetics Home Reference : 25 Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness [malacards.org]

It is inherited in an autosomal recessive pattern. 0002141 Hyperreflexia Increased reflexes 0001347 Muscle weakness Muscular weakness 0001324 Pseudobulbar behavioral symptoms 0002193 Spastic gait Spastic walk 0002064 Spastic tetraparesis 0001285 30%-79% [rarediseases.info.nih.gov]

Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign. [en.wikipedia.org]

Symptoms muscle weakness (leg, arms and tongue) spasticity ( hypertonia ) balance problems slow movements depression slurred speech stiffness hyperreflexia ( Babinski s sign present) Diagnosis There is no specific test for primary lateral sclerosis. [wikilectures.eu]

Clinical manifestations include progressive weakness, atrophy, fasciculation, hyperreflexia, dysarthria, dysphagia, and eventual paralysis of respiratory function. [icd10data.com]

Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign. [en.wikipedia.org]

Lower motor neuron loss causes initially increased electrical excitability leading to fasciculations, and later muscle weakness and atrophy; upper motor neuron involvement causes spasticity, clonus, hyperactive tendon reflexes, and Babinski signs. [neuropathology-web.org]

All deep tendon reflexes were exaggerated with bilateral ankle clonus and Babinski sign. There was no sensory or cerebellar dysfunction. Routine hematological and biochemical investigations including chest X-ray were normal. [neurologyindia.com]

It is inherited in an autosomal recessive pattern. 0002141 Hyperreflexia Increased reflexes 0001347 Muscle weakness Muscular weakness 0001324 Pseudobulbar behavioral symptoms 0002193 Spastic gait Spastic walk 0002064 Spastic tetraparesis 0001285 30%-79% [rarediseases.info.nih.gov]

2005 Abbreviations SPG Spastic Gait gene locus; AD Autosomal dominant; AR Autosomal recessive; HSP60 heat shock protein 60 (mitochondrial Chaperonin); KIF5A kinesin heavy chain; NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1; L1CAM L1 cell [wiki.iop.kcl.ac.uk]

JALS is characterized by onset during childhood (mean age of onset is 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, inconstant moderate muscle atrophy, bladder dysfunction, and sensory disturbances; [cmm.ucsd.edu]

During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. [orpha.net]

Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs. [thieme-connect.com]

Examination reveals upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal, or sensory signs. [cmm.ucsd.edu]