Ataxia, and Pes cavus

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

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

• Ataxia
• Peripheral neuropathy
• Hyperreflexia
• Dysarthria
• Tremor

SOURCES: OMIM ORPHANET MESH MENDELIAN

Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4F Is also known as cmt4f

• Scoliosis
• Ataxia
• Muscle weakness
• Motor delay
• Peripheral neuropathy

SOURCES: ORPHANET OMIM MENDELIAN

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

• Global developmental delay
• Hyperreflexia
• Dysarthria
• Intellectual disability, mild
• Pes cavus

SOURCES: ORPHANET MENDELIAN

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

• Intellectual disability
• Seizures
• Scoliosis
• Fatigue
• Dystonia

SOURCES: ORPHANET MENDELIAN

• Generalized hypotonia
• Ataxia
• Nystagmus
• Spasticity
• Delayed speech and language development

SOURCES: OMIM MENDELIAN

Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

• Hearing impairment
• Nystagmus
• Muscle weakness
• Dysarthria
• Skeletal muscle atrophy

SOURCES: ORPHANET MENDELIAN

Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2P Is also known as cmt2p|charcot-marie-tooth disease, axonal, type 2g, formerly|cmt2g, formerly|charcot-marie-tooth neuropathy, type 2p

• Ataxia
• Muscle weakness
• Pain
• Peripheral neuropathy
• Skeletal muscle atrophy

SOURCES: OMIM ORPHANET MENDELIAN

Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). Genetic Heterogeneity of Spastic AtaxiaSee also SPAX2 (OMIM ), caused by mutation in the KIF1C gene (OMIM ) on chromosome 17p13; SPAX3 (OMIM ), caused by rearrangements of the MARS2 gene (OMIM ) on chromosome 2q33; SPAX4 (OMIM ), caused by mutation in the MTPAP gene (OMIM ) on chromosome 10p11; SPAX5 (OMIM ), caused by mutation in the AFG3L2 gene (OMIM ) on chromosome 18p11; SPAX6 (OMIM ), caused by mutation in the SACS gene (OMIM ) on chromosome 13q12; SPAX7 (OMIM ); and SPAX8 (OMIM ), caused by mutation in the NKX6-2 gene (OMIM ) on chromosome 8q21.

• Ataxia
• Spasticity
• Ptosis
• Hyperreflexia
• Dysarthria

SOURCES: OMIM MENDELIAN

Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

• Ataxia
• Nystagmus
• Pain
• Peripheral neuropathy
• Dysarthria

SOURCES: OMIM MENDELIAN