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POMPE

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

2021-07-01

In Late-onset Pompe disease (LOPD), tongue weakness and imaging abnormalities are increasingly recognized. Quantitative tongue weakness and/or atrophy may help distinguish LOPD from other acquired/hereditary myopathies.

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

2021-04-21

The guidelines in this study provide solid evidence-based and expert-agreed advice on the risks/benefits of disease-modifying treatments and medical procedures used for the management of patients with CLN2 disease and other neurodegenerative diseases.

CLN2

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease

2021-04-01

The data of this study support the inclusion of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in the differential diagnosis of children who have seizures, behavioural disorders, or language abnormalities. Early diagnosis will allow early initiation of specific treatments.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

CLN2

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease

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