X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness

The main neuropathological findings consisted of spinal cord atrophy, mainly the lower thoracic cord, diffuse degeneration of the white and grey matter, rare foci of mononuclear

Although several hereditary neurodegenerative diseases, among which Kennedy’s disease (KD) also known as X-linked spinal and bulbar muscular atro- phy and Kugelberg-Welander’s

Juvenile onset bul- bospinal muscular atrophy with deafness: Vialetto-van Laere syndrome or Madras type motor neuron disease?. J

Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B ( VAPB ) gene is a rare autosomal dominant disease with late

X-linked juvenile retinoschisis (XLRS; OMIM 312700), also known as congenital cystic retinal detachment or congenital retinoschisis is a relati- vely rare disease, characterized

Dent’s disease type 1 is an X-linked tu- bular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight

Intellectual disability is a frequent inding in Autosomal Recessive and X-linked HSPs.. In HSP-SPG11, the disorder is