Abnormal facial shape, and Amyotrophic lateral sclerosis

Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

• Ataxia
• Muscle weakness
• Muscular hypotonia
• Pain
• Peripheral neuropathy

SOURCES: ORPHANET OMIM MENDELIAN

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET OMIM MESH MENDELIAN

• Dementia
• Pallor
• Neuronal loss in central nervous system
• Amyotrophic lateral sclerosis

SOURCES: OMIM MENDELIAN

• Dementia
• Mental deterioration
• Amyotrophic lateral sclerosis
• Frontotemporal dementia
• Abnormal lower motor neuron morphology

SOURCES: OMIM MENDELIAN

• Muscular dystrophy
• Elevated alkaline phosphatase
• Amyotrophic lateral sclerosis
• Rimmed vacuoles
• Muscle fiber inclusion bodies

SOURCES: OMIM MENDELIAN

• Skeletal muscle atrophy
• Amyotrophic lateral sclerosis
• Bulbar signs
• Upper motor neuron dysfunction

SOURCES: OMIM MESH MENDELIAN

Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.

AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX Is also known as guam disease|als-pdc|parkinsonism-dementia-als complex|pdals|amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome|amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam|lytico-bodig disease

• Muscle weakness
• Dementia
• Paralysis
• Muscle cramps
• Parkinsonism

SOURCES: OMIM ORPHANET MENDELIAN

• Muscle weakness
• Spasticity
• Hyperreflexia
• Paralysis
• Lower limb spasticity

SOURCES: OMIM MENDELIAN

• Spasticity
• Dementia
• Distal muscle weakness
• Distal amyotrophy
• Parkinsonism

SOURCES: OMIM MESH MENDELIAN