walking Difficulty in walking 0002355 Dysarthria Difficulty articulating speech 0001260 Elevated serum creatine kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated [rarediseases.info.nih.gov]

This is followed by worsening of the functioning of the brain and spinal cord, which causes severe epilepsy, difficulty walking, depression and dementia, and eventually leads to death. [kipdf.com]

Research output : Contribution to journal › Letter › Other › peer-review ABPI reporting and compression recommendations in global clinical practice guidelines on venous leg ulcer management: A scoping review Weller, C. D., Team, V., Ivory, J. [monash.edu]

[…] genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia [malacards.org]

Showing of 12 Percent of people who have these symptoms is not available through HPO Absence seizure Brief seizures with staring spells 0002121 Areflexia Absent tendon reflexes 0001284 Ataxia 0001251 Atonic seizures 0010819 Autosomal recessive inheritance [rarediseases.info.nih.gov]

NOL3 Myoglobinuria acute recurrent LPIN1 Myopathy due to Integrin 7A deficiency ITGA7 Myopathy due to myoadenylate deaminase deficiency AMPD1 Myopathy with fiber-type disproportion SELENON Myopathy with fiber-type disproportion type 1 ACTA1 Myopathy, areflexia [centogene.com]

attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.Visit the Orphanet disease page for more resources. [malacards.org]

attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course. [orpha.net]

 Characteristically, visual seizures are the first manifestation, followed by generalized tonic–clonic seizures, absences, or drop attacks.  Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often [slideshare.net]

Showing of 12 Percent of people who have these symptoms is not available through HPO Absence seizure Brief seizures with staring spells 0002121 Areflexia Absent tendon reflexes 0001284 Ataxia 0001251 Atonic seizures 0010819 Autosomal recessive inheritance [rarediseases.info.nih.gov]

phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Myoclonus 0001336 Progressive Worsens with time 0003676 Scoliosis Abnormal curving of the spine 0002650 Tremor Tremors 0001337 Showing [rarediseases.info.nih.gov]