Ataxia, and Babinski sign

Medium match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

• Seizures
• Ataxia
• Peripheral neuropathy
• Dysarthria
• Tremor

SOURCES: MESH OMIM MENDELIAN

Medium match SPINOCEREBELLAR ATAXIA TYPE 4

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

• Ataxia
• Muscle weakness
• Peripheral neuropathy
• Dysarthria
• Gait disturbance

SOURCES: OMIM ORPHANET MENDELIAN

Medium match SPINOCEREBELLAR ATAXIA TYPE 26

Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.

SPINOCEREBELLAR ATAXIA TYPE 26 Is also known as sca26

• Seizures
• Ataxia
• Nystagmus
• Dysarthria
• Cerebellar atrophy

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

• Intellectual disability
• Generalized hypotonia
• Ataxia
• Nystagmus
• Strabismus

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match CLN13 DISEASE

Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

• Seizures
• Generalized hypotonia
• Ataxia
• Cognitive impairment
• Hyperreflexia

SOURCES: OMIM ORPHANET MENDELIAN

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27 Is also known as spg27

• Sensorineural hearing impairment
• Spasticity
• Hyperreflexia
• Dysarthria
• Babinski sign

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

• Intellectual disability
• Seizures
• Ataxia
• Spasticity
• Cognitive impairment

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

• Ataxia
• Spasticity
• Cognitive impairment
• Peripheral neuropathy
• Hyperreflexia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Medium match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

• Ataxia
• Dysarthria
• Gait disturbance
• Dysphagia
• Congestive heart failure

SOURCES: OMIM MENDELIAN

Medium match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

• Ataxia
• Muscle weakness
• Skeletal muscle atrophy
• Tremor
• Gait disturbance

SOURCES: ORPHANET OMIM MENDELIAN