Ataxia, and Distal muscle weakness

Low match NONAKA MYOPATHY; NM

NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

• Ataxia
• Muscle weakness
• Gait disturbance
• Myopathy
• Elevated serum creatine phosphokinase

SOURCES: OMIM MENDELIAN

Low match SPINOCEREBELLAR ATAXIA TYPE 38

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 38 Is also known as sca38

• Ataxia
• Nystagmus
• Peripheral neuropathy
• Dysarthria
• Tremor

SOURCES: ORPHANET OMIM MENDELIAN

Low 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

Low match ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

• Generalized hypotonia
• Hyporeflexia
• Gait ataxia
• Unsteady gait
• Drooling

SOURCES: ORPHANET MENDELIAN

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4F

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

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26

• Ataxia
• Nystagmus
• Muscle weakness
• Peripheral neuropathy
• Dysarthria

SOURCES: OMIM MENDELIAN

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

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

Low match SPINOCEREBELLAR ATAXIA TYPE 43

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

• Pain
• Dysarthria
• Areflexia
• Hyporeflexia
• Pes cavus

SOURCES: ORPHANET MENDELIAN

Low match ROUSSY-LÉVY SYNDROME

ROUSSY-LÉVY SYNDROME Is also known as hereditary areflexic dystasia, roussy-lÉvy type|roussy-levy syndrome

• Ataxia
• Nystagmus
• Motor delay
• Tremor
• Gait disturbance

SOURCES: OMIM ORPHANET MENDELIAN

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

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

SOURCES: ORPHANET OMIM MENDELIAN