Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review

Familial manifestation of limb-girdle muscular dystrophy associated with FKTN gene: a case report

Abstract Introduction: to report a familial case of Limb-girdle muscular dystrophy, type C, 4 (MDDGC4) associated with a homozygous mutation in FKTN gene, highlighting phenotypic variability, diagnostic delay, and atypical clinical features described in the pediatric literature. Description: two siblings were evaluated...

X-linked dystonia parkinsonism as a cause of isolated lingual dystonia (ILD).

GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.

A rare case of hereditary spastic paraplegia with homozygous mutation in the ZFYVE26 gene.

Hereditary spastic paraplegia (HSP) refers to a group of rare, progressive neurodegenerative disorders characterized by spasticity and weakness predominantly affecting the lower limbs, with significant clinical and genetic heterogeneity. Clinically, HSP is classified into "pure" and "complicated" forms. SPG15 (ZFYVE26)...

Schwartz-Jampel Syndrome: A Case Report with Clinical and Phenotypic Insights

In early-onset myotonic disorders, SJS should be considered with characteristic craniofacial and skeletal features, and symptomatic treatment with sodium-channel–blocking agents and multidisciplinary rehabilitation may confer functional benefit.

GNE myopathy: a multifaceted review of genetic, clinical, and management perspectives

GNE myopathy is a rare autosomal recessive neuromuscular disorder characterized by progressive distal muscle weakness, early foot drop, and relative sparing of the quadriceps until advanced stages of disease progression. The disorder results from pathogenic variants in the GNE gene, which encodes a bifunctional enzyme...