Epilepsy, familial adult myoclonic, 5- MedGen UID:
- 815704
- •Concept ID:
- C3809374
- •
- Disease or Syndrome
Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023).
For a discussion of genetic heterogeneity of EPEO, see 617290.
Spastic ataxia 10, autosomal recessive- MedGen UID:
- 1851662
- •Concept ID:
- C5882738
- •
- Disease or Syndrome
Autosomal recessive spastic ataxia-10 (SPAX10) is a slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Affected individuals present with gait abnormalities due to spasticity and hyperreflexia of the lower limbs and/or cerebellar gait and limb ataxia. More variable features may include dysarthria, saccadic eye movements, and mild cognitive impairment. Some patients show cerebellar atrophy on brain imaging. The disorder can be classified as a movement disorder on the ataxia-spasticity spectrum (ASS) (Cordts et al., 2022).
For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language- MedGen UID:
- 1854654
- •Concept ID:
- C5935628
- •
- Disease or Syndrome
ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).