Muscle weakness, and Babinski sign

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

• Intellectual disability
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Gait disturbance

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

• Spasticity
• Cognitive impairment
• Hyperreflexia
• Talipes equinovarus
• Babinski sign

SOURCES: MESH OMIM MENDELIAN

Medium match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

• Muscle weakness
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Skeletal muscle atrophy

SOURCES: ORPHANET OMIM MENDELIAN

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

• Scoliosis
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Babinski sign

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2

Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (OMIM ).

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2 Is also known as hmnj|dhmn2|distal spinal muscular atrophy type 2|neuronopathy, distal hereditary motor, jerash type|neuropathy, distal hereditary motor, jerash type|dsma2|spinal muscular atrophy, jerash type

• Muscle weakness
• Peripheral neuropathy
• Skeletal muscle atrophy
• Hyporeflexia
• Babinski sign

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

Childhood- and adolescent-onset forms of familial ALS (see ALS1, {105400}) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (OMIM ) and ALS5 (OMIM ).

AMYOTROPHIC LATERAL SCLEROSIS TYPE 4 Is also known as als4|neuronopathy, distal hereditary motor, with pyramidal features|distal hereditary motor neuropathy with upper motor neuron signs|dhmn with upper motor neuron signs

• Peripheral neuropathy
• Hyperreflexia
• Skeletal muscle atrophy
• Gait disturbance
• Babinski sign

SOURCES: MESH OMIM ORPHANET 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 PRIMARY LATERAL SCLEROSIS

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

• Muscle weakness
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Dysarthria

SOURCES: ORPHANET OMIM MESH 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 SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME

Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.

• Gait disturbance
• Babinski sign
• Arthralgia
• Spastic paraplegia
• Recurrent fractures

SOURCES: ORPHANET MENDELIAN