Affected children have coarse facial features and visceromegaly consistent with a lysosomal storage disease. [ncbi.nlm.nih.gov]

Mental deterioration, emaciation, severe feeding difficulties, and visual impairment occur commonly in the late stages of the disease. The disease has its onset in the first or second decade of life. [medicinenet.com]

Average age of onset is 66 years and other common features include vertical gaze palsy, diplopia, and photophobia, which are not features of PKAN. [ncbi.nlm.nih.gov]

Average age of onset is 66 years and other common features include vertical gaze palsy, diplopia, and photophobia, which are not features of PKAN. [ncbi.nlm.nih.gov]

grimacing painful muscle spasms HSD is a genetic disease. [healthline.com]

Differential diagnoses include the following: Early-onset Parkinson disease including parkin type of juvenile Parkinson disease and PLA2G6 -associated dystonia-parkinsonism may initially present similarly to atypical PKAN, with onset between age 20 and [ncbi.nlm.nih.gov]

The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. [ncbi.nlm.nih.gov]

We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy. [ncbi.nlm.nih.gov]

[…] and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia [books.google.com]

Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. [ncbi.nlm.nih.gov]

Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria retinitis pigmentosa tremors The clinical course is usually relentlessly progressive [radiopaedia.org]

Pyramidal signs including spasticity and hyperreflexia. Retinitis pigmentosa Atypical PKAN : Usually presents around 12-14 years of age. Slower progression. Speech and behavioural problems predominate in the early stages. [genetics4medics.com]

Table-1: Diagnostic features of Hallervorden spatz disease [11] Obligate Features Collaborate Features Exclusion Features Onset during first two decades Pyramidal tract signs Non progressive nature of the disease Progressive nature of the disease Progressive [medresearch.in]

tract signs. 1 Choreoathetotic movements or tremor may also be present but these features have not been described in isolation. [jnnp.bmj.com]

tract signs (rare) Cranial nerve involvement (rare) These disorders include the following: Hypobetalipoproteinemia type 1 (FHBL1; OMIM 615558 ) Hypobetalipoproteinemia type 2 (FHBL2; OMIM 605019 ) FHBL1, FHBL2, and ABL share the findings of acanthocytosis [ncbi.nlm.nih.gov]

nerve involvement (rare) These disorders include the following: Hypobetalipoproteinemia type 1 (FHBL1; OMIM 615558 ) Hypobetalipoproteinemia type 2 (FHBL2; OMIM 605019 ) FHBL1, FHBL2, and ABL share the findings of acanthocytosis, dysarthria, neuropathy [ncbi.nlm.nih.gov]

Affected children have coarse facial features and visceromegaly consistent with a lysosomal storage disease. [ncbi.nlm.nih.gov]