Cognitive impairment, and Areflexia

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 4

Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

• Ataxia
• Muscle weakness
• Cognitive impairment
• Peripheral neuropathy
• Cerebellar atrophy

SOURCES: OMIM ORPHANET MENDELIAN

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

• Ataxia
• Cognitive impairment
• Peripheral neuropathy
• Gait disturbance
• Cerebral atrophy

SOURCES: OMIM ORPHANET MENDELIAN

Low 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

Low 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

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

• Seizures
• Scoliosis
• Ataxia
• Peripheral neuropathy
• Dysarthria

SOURCES: OMIM ORPHANET MENDELIAN

Low match COASY PROTEIN-ASSOCIATED NEURODEGENERATION

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

• Spasticity
• Cognitive impairment
• Peripheral neuropathy
• Dysarthria
• Skeletal muscle atrophy

SOURCES: ORPHANET OMIM MENDELIAN

Low match AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).

AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 Is also known as amyotrophic lateral sclerosis, chmp2b-related

• Muscle weakness
• Dysarthria
• Skeletal muscle atrophy
• Dysphagia
• Respiratory insufficiency

SOURCES: MESH OMIM MENDELIAN

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

• Generalized hypotonia
• Muscle weakness
• Spasticity
• Flexion contracture
• Hyperreflexia

SOURCES: ORPHANET OMIM 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 JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

• Short stature
• Hearing impairment
• Ataxia
• Sensorineural hearing impairment
• Cognitive impairment

SOURCES: OMIM ORPHANET MENDELIAN