Spinal muscular atrophy with progressive myoclonic epilepsy
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive mus...
McLeod syndrome
McLeod syndrome (or McLeod phenomenon; /məˈklaʊd/) is a X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessi...
Dejerine–Sottas disease
Dejerine–Sottas disease, also known as Dejerine–Sottas syndrome, Dejerine–Sottas neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy (and, hereditar...
Dentatorubral-pallidoluysian atrophy
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. It i...
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common...
Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially promin...
Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1) and hereditary motor neuropathy type 6 (HMN6) — is a rare neuromuscular d...
Distal spinal muscular atrophy type 1 - Wikipedia
Congenital insensitivity to pain with anhidrosis
Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV — is an extremely rare inherited disorder of the nervous system which prevents ...
Congenital insensitivity to pain with anhidrosis - Wikipedia
De Vivo disease
De Vivo disease is an autosomal dominant developmental disorder associated with a deficiency of GLUT1 also known as Glucose transporter type 1 deficiency syndrome (GLUT1-DS)
De Vivo disease is cha...
Congenital distal spinal muscular atrophy
Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-...
Congenital distal spinal muscular atrophy - Wikipedia
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication. HMSN are characterized by no...
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as...
Pontocerebellar hypoplasia - Wikipedia
Allan–Herndon–Dudley syndrome
Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs...
Spinal muscular atrophy
Proximal spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells. SMN is appa...
Hereditary sensory and autonomic neuropathy type I
Hereditary sensory and autonomic neuropathy type I (HSAN I) or hereditary sensory neuropathy type I (HSN I) is a group of autosomal dominant inherited neurological diseases that affect the peripheral ...
Fragile X syndrome
Fragile X syndrome (FXS), also known as Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome. Nearly half of all children with fragile ...
Fragile X syndrome - Wikipedia
Familial dysautonomia
Familial dysautonomia (FD), sometimes called Riley–Day syndrome and hereditary sensory and autonomic neuropathy type III (HSAN-III) — is a disorder of the autonomic nervous system which affects the de...
Familial dysautonomia - Wikipedia