Muscle weakness, and Urinary incontinence

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13 Is also known as spg13

• Hearing impairment
• Scoliosis
• Hyperreflexia
• Babinski sign
• Pes cavus

SOURCES: OMIM MESH ORPHANET MENDELIAN

Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

• Seizures
• Muscle weakness
• Spasticity
• Hyperreflexia
• Skeletal muscle atrophy

SOURCES: OMIM ORPHANET MENDELIAN

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

• Strabismus
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Babinski sign

SOURCES: ORPHANET OMIM MESH MENDELIAN

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6 Is also known as spg6|familial spastic paraplegia, autosomal dominant, 3|fsp3

• Seizures
• Spasticity
• Hyperreflexia
• Skeletal muscle atrophy
• Tremor

SOURCES: MESH ORPHANET OMIM MENDELIAN

Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37 Is also known as spg37

• Seizures
• Hyperreflexia
• Fatigue
• Babinski sign
• Difficulty walking

SOURCES: ORPHANET OMIM MESH MENDELIAN

• Cognitive impairment
• Hyperreflexia
• Skeletal muscle atrophy
• Tremor
• Babinski sign

SOURCES: OMIM MESH MENDELIAN

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

• Seizures
• Global developmental delay
• Generalized hypotonia
• Muscle weakness
• Muscular hypotonia

SOURCES: MESH OMIM MENDELIAN

Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48 Is also known as spg48

• Intellectual disability
• Global developmental delay
• Ataxia
• Spasticity
• Cognitive impairment

SOURCES: ORPHANET OMIM MENDELIAN

Hereditary sensory and autonomic neuropathy type IIB is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by Ilgaz Aydinlar et al., 2014).HSAN2A (OMIM ) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

• Spasticity
• Peripheral neuropathy
• Gait disturbance
• Areflexia
• Hyporeflexia

SOURCES: OMIM MENDELIAN

Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8

• Ataxia
• Pain
• Spasticity
• Peripheral neuropathy
• Hyperreflexia

SOURCES: OMIM ORPHANET MESH MENDELIAN